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Find video protocols related to scientific articles indexed in Pubmed.
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia.
Arq Neuropsiquiatr
PUBLISHED: 12-08-2014
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Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.
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Movement Disorders in Spinocerebellar Ataxias in a Cohort of Brazilian Patients.
Eur. Neurol.
PUBLISHED: 06-13-2014
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Background: Movement disorders (MDs) are well recognized in all subtypes of spinocerebellar ataxias (SCA), but phenomenology and frequency vary widely. Methods: Three hundred seventy-eight patients, from 169 Brazilian families, with SCAs were assessed with neurological examination and molecular genetic testing. Results: Dystonia was the most common movement disorder, found in 5.5% of all patients, particularly in SCA3. We observed Parkinsonian features in 6.6% of SCA3 patients, and myoclonus in two patients of our cohort. Conclusions: Our study demonstrated that MDs are major extracerebellar manifestations of SCA. The observed phenotypes in addition to ataxia may provide significant clues for a particular SCA genotype. © 2014 S. Karger AG, Basel.
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Psychogenic nonepileptic seizures and psychogenic movement disorders: two sides of the same coin?
Arq Neuropsiquiatr
PUBLISHED: 06-01-2014
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Psychogenic nonepileptic seizures (PNES) and psychogenic movement disorders (PMD) are commonly seen in Neurology practice and are categorized in the DSM-5 as functional neurological disorders/conversion disorders. This review encompasses historical and epidemiological data, clinical aspects, diagnostic criteria, treatment and prognosis of these rather challenging and often neglected patients. As a group they have puzzled generations of neurologists and psychiatrists and in some ways continue to do so, perhaps embodying and justifying the ultimate and necessary link between these specialties.
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Neurology in Federico Fellini?s work and life.
Arq Neuropsiquiatr
PUBLISHED: 05-04-2014
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The authors present a historical review of the neurological diseases related to the famous moviemaker Federico Fellini. There is an account of diseases depicted on his movies as well as his ischemic stroke and consequent neurological deficit - left spatial neglect.
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[Neurological diseases in the Dalton Trevisan's short stories].
Acta Med Port
PUBLISHED: 04-30-2014
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The relationship between fictional literature and Medicine, particularly Neurology, is very wide. The aim of this review is to analyze the Dalton Trevisan's work, considered the most important Brazilian short stories writer, focusing in the description of neurological diseases.
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Electrophysiologic characteristics of tremor in Parkinson's disease and essential tremor.
Arq Neuropsiquiatr
PUBLISHED: 04-25-2014
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Tremor in essential tremor (ET) and Parkinson's disease (PD) usually present specific electrophysiologic profiles, however amplitude and frequency may have wide variations.
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Pull test performance and correlation with falls risk in Parkinson's disease.
Arq Neuropsiquiatr
PUBLISHED: 04-24-2014
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Postural instability (PI) and falls are major sources of disability in Parkinson's disease (PD). Our objectives were to evaluate the correlation between the pull-test (PT) scores and falls. Patients underwent a standardized data collection including demographic, clinical data, and the UPDRS scores for falls and the PT. Cases with scores >1 for falls were considered frequent fallers. 264 patients were included with mean age 67.6±10 years, mean age of onset 59.1±10.7 years. Comparison between PT scores versus the proportion of frequent fallers and the mean score of the UPDRS for falls showed that for each increase in the PT score, both parameters were significantly worse, with positive linear relationship. For any abnormal PT score, sensibility and negative predictive value were excellent; specificity and positive predictive value improved with worse PT scores. In conclusion, the PT provides important and reliable information regarding PI and the risk of falls in PD.
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Jean-Baptiste Charcot and Brazil.
Arq Neuropsiquiatr
PUBLISHED: 04-20-2014
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Jean-Baptiste Charcot, a neurologist from the famous Salpêtrière school and a renowned maritime explorer, visited Brazil twice. The first visit was in 1903, when the first French Antarctic expedition, traveling aboard the ship Français, made a very short stopover in Recife, in the state of Pernambuco. The second took place in 1908, during the famous voyage of the Pourquoi Pas? to the Antarctic, when Charcot and his crew stayed in the city of Rio de Janeiro for eight days.
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Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.
Arq Neuropsiquiatr
PUBLISHED: 04-07-2014
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Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems.
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Evolution of the concept of dystonia.
Arq Neuropsiquiatr
PUBLISHED: 04-03-2014
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The term dystonia was proposed by Hermann Oppenheim in 1911, but reports of cervical dystonia are finding since the Roman Empire. The differentiation of the dystonia between a neurological and a psychiatric disease turned a lot. Sometimes was proposed, further, the exclusion of the dystonia as a different phenomenon among the movement disorders. The hypothesis of emotional etiology of the dystonias increase in the decade of 1960 and the conclusion of the etiology of dystonia only happened in the decades of 1970 and 1980 with a series of works of Charles David Marsden. These researches defined dystonia as a movement disorder caused by lesion in the basal ganglia. In February of 1984, a committee of members of Scientific Advisory Board of the Dystonia Medical Research Foundation developed the definition for dystonia accepts until 2013 when an international committee developed the new concept.
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The physical, social and emotional aspects are the most affected in the quality of life of the patients with cervical dystonia.
Arq Neuropsiquiatr
PUBLISHED: 04-01-2014
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Describe the functional, clinical and quality of life (QoL) profiles in patients with cervical dystonia (CD) with residual effect or without effect of botulinum toxin (BTX), as well as verify the existence of correlation between the level of motor impairment, pain and QoL.
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Proust, neurology and Stendhal's syndrome.
Eur. Neurol.
PUBLISHED: 03-13-2014
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Marcel Proust is one of the most important French writers of the 20th century. His relationship with medicine and with neurology is possibly linked to the fact that his asthma was considered to be a psychosomatic disease classified as neurasthenia. Stendhal's syndrome is a rare psychiatric syndrome characterized by anxiety and affective and thought disturbances when a person is exposed to a work of art. Here, the authors describe neurological aspects of Proust's work, particularly the occurrence of Stendhal's syndrome and syncope when he as well as one of the characters of In Search of Lost Time see Vermeer's View of Delft during a visit to a museum.
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Cervical dystonia: about familial and sporadic cases in 88 patients.
Arq Neuropsiquiatr
PUBLISHED: 03-08-2014
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Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.
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Jean-Baptiste Charcot, the French Antarctic expedition and scurvy.
Arq Neuropsiquiatr
PUBLISHED: 03-02-2014
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During the second expedition to the South Pole, Commander Jean-Baptiste Charcot and some members of the crew of "Pourquoi Pas?" developed symptoms suggestive of scurvy. The clinical picture was totally reversed after dietary changes.
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The relationship between Marcel Proust and Joseph Babinski: the encounter of two geniuses.
Arq Neuropsiquiatr
PUBLISHED: 02-18-2014
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Marcel Proust was one of the greatest French writers of all times. Since early in his life, Proust was interested in arts and particularly literature. He also demonstrated a great knowledge of medicine, particularly neurology. His father was a doctor, and contributed to neurology through studies on aphasia, stroke, hysteria, and neurasthenia. During his childhood, Proust had the first asthma attack, initially considered a manifestation of neurasthenia. Regarding his illness, Proust was in touch with several renowned neurologists, such as Brissaud, Babinski and Sollier, and other disciples of Charcot. Proust spent the last three years of his life mostly confined to his bedroom since his health had badly deteriorated. In one moment, Babinski was called, examined Proust and after leaving his bedroom, announced to his brother that Proust was practically dead. Few hours later, Proust developed vomica and died.
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126 hysterical years - the contribution of Charcot.
Arq Neuropsiquiatr
PUBLISHED: 02-17-2014
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The authors summarise the concepts of hysteria, emphasizing the seminal contribution of Charcot to its study.
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Postural instability in Parkinson's disease - 120 years after Charcot's death.
Arq Neuropsiquiatr
PUBLISHED: 02-09-2014
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The authors present the original Charcot's description of postural instability in Parkinson's disease as well as the evolution of this sign after 120 years of Charcot's death.
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Edgar Allan Poe and neurology.
Arq Neuropsiquiatr
PUBLISHED: 02-08-2014
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Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.
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DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.
Tremor Other Hyperkinet Mov (N Y)
PUBLISHED: 01-01-2014
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Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinical population in Brazil.
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Where is Gilles? Or, the little mistake in a copy of Brouillets painting: "a clinical lesson at the Salpêtrière".
Arq Neuropsiquiatr
PUBLISHED: 05-22-2013
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Professor Jean-Martin Charcot is considered the most important professor of Neurology and also the head of the Salpêtrière School of Neurology. In a famous picture painted by André Brouillet and presented at the Salon of 1887, under the title "A clinical lesson at the Salpêtrière", Professor Charcot presents a case of hysteria to a large audience of physicians and renowned intellectuals. Copies of this guided picture are also available for sale at the shop of the Museum of the School of Medicine of Paris and are frequently used in lectures by neurologists worldwide. However, in these reproductions, Gilles de la Tourettes and Charles Férés positions are inverted. This historical note sheds some light on this little mistake in some of the reproductions of Brouillets famous painting, so that further confusion can be avoided.
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Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.
Neurogenetics
PUBLISHED: 05-13-2013
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Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients present with pure cerebellar ataxia; yet, some families also have a high incidence of epilepsy. SCA10 expansions containing penta- and heptanucleotide interruption motifs, termed "ATCCT interruptions," experience large contractions during germline transmission, particularly in paternal lineages. At the same time, these alleles confer an earlier age at onset which contradicts traditional rules of genetic anticipation in repeat expansions. Previously, ATCCT interruptions have been associated with a higher prevalence of epileptic seizures in one Mexican-American SCA10 family. In a large cohort of SCA10 families, we analyzed whether ATCCT interruptions confer a greater risk for developing seizures in these families. Notably, we find that the presence of repeat interruptions within the SCA10 expansion confers a 6.3-fold increase in the risk of an SCA10 patient developing epilepsy (6.2-fold when considering patients of Mexican ancestry only) and a 13.7-fold increase in having a positive family history of epilepsy (10.5-fold when considering patients of Mexican ancestry only). We conclude that the presence of repeat interruptions in SCA10 repeat expansion indicates a significant risk for the epilepsy phenotype and should be considered during genetic counseling.
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Is San Franciscos "The Shaking Man" an urban depiction of parkinsonism?
Arq Neuropsiquiatr
PUBLISHED: 04-17-2013
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Art and Medicine often mingle in the most unexpected ways. One can often find in pictorial art the representation of many medical conditions. The same can happen with sculptures; however, the finding of an urban sculpture in a public space with features of parkinsonism is unique. We reported how "The Shaking Man", an urban sculpture located in the Yerba Buena Gardens in San Francisco, USA, is a contemporary representation of parkinsonism and compared it with other art works in different media that also present such thing to laymen.
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Demographic and motor features associated with the occurrence of neuropsychiatric and sleep complications of Parkinsons disease.
J. Neurol. Neurosurg. Psychiatr.
PUBLISHED: 03-05-2013
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To determine whether four key neuropsychiatric and sleep related features associated with Parkinsons disease (PD) are associated with the motor handicap and demographic data.
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Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias.
Arq Neuropsiquiatr
PUBLISHED: 02-26-2013
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To investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.
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Delusional misidentification syndrome and other unusual delusions in advanced Parkinsons disease.
Parkinsonism Relat. Disord.
PUBLISHED: 02-21-2013
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Unusual delusional syndromes are rare protean diseases with speculative etiopathogenic mechanisms.
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Parakinesia brachialis oscitans during thrombolytic therapy.
BMJ Case Rep
PUBLISHED: 02-20-2013
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The authors describe a case report of a patient with parakinesia brachialis oscitans, which occurred during thrombolytic therapy, in a patient with left-middle cerebral artery occlusion.
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Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilsons disease.
J Clin Neurosci
PUBLISHED: 02-17-2013
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The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilsons disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A?T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.
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Professor Abraham Akerman.
Arq Neuropsiquiatr
PUBLISHED: 02-09-2013
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The authors present a historical review of the contribution of Professor Abraham Akerman to Brazilian neurology, including the famous sign known as "the Alajouanine-Akerman unstable ataxic hand".
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MacDonald Critchley.
Arq Neuropsiquiatr
PUBLISHED: 01-23-2013
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The authors presented a historical review on Professor MacDonald Critchley, 15 years after his death.
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Professor Elio Lugaresis contributions to neurology and sleep disorders.
Arq Neuropsiquiatr
PUBLISHED: 01-21-2013
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The authors present a brief historical review of the most important contributions by Professor Elio Lugaresi, of the University of Bologna, Italy, to neurology and sleep disorders.
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Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Mov. Disord.
PUBLISHED: 01-15-2013
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Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.
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Wilsons disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
Arq Neuropsiquiatr
PUBLISHED: 01-04-2013
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Wilsons disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil.
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Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.
Eur. J. Hum. Genet.
PUBLISHED: 01-02-2013
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Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder caused by a noncoding ATTCT pentanucleotide expansion. An inverse correlation between SCA10 expansion size and age at onset has been reported, and genetic anticipation has been documented. Interruptions in the ATTCT expansion are known to occur within the expansion. In order to determine the effect of repeat interruptions in SCA10 expansions, we designed a PCR assay to easily identify ATCCT repeat interruptions in the 5-end of the expansion. We screened a cohort of 31 SCA10 families of Mexican, Brazilian and Argentinean ancestry to identify those with ATCCT repeat interruptions within their SCA10 expansions. We then studied the effects of ATCCT interruptions on intergenerational repeat instability, anticipation and age at onset. We find that the SCA10 expansion size is larger in SCA10 patients with an interrupted allele, but there is no difference in the age at onset compared with those expansions without detectable interruptions. An inverse correlation between the expansion size and the age at onset was found only with SCA10 alleles without interruptions. Interrupted expansion alleles show anticipation but are accompanied by a paradoxical contraction in intergenerational repeat size. In conclusion, we find that SCA10 expansions with ATCCT interruptions dramatically differ from SCA10 expansions without detectable ATCCT interruptions in repeat-size-instability dynamics and pathogenicity.
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Expansion of the Spinocerebellar Ataxia Type 10 (SCA10) Repeat in a Patient with Sioux Native American Ancestry.
PLoS ONE
PUBLISHED: 01-01-2013
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Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in the ATAXIN 10 gene. To date, all cases of SCA10 are restricted to patients with ancestral ties to Latin American countries. Here, we report on a SCA10 patient with Sioux Native American ancestry and no reported Hispanic or Latino heritage. Neurological exam findings revealed impaired gait with mild, age-consistent cerebellar atrophy and no evidence of epileptic seizures. The age at onset for this patient, at 83 years of age, is the latest documented for SCA10 patients and is suggestive of a reduced penetrance allele in his family. Southern blot analysis showed an SCA10 expanded allele of 1400 repeats. Established SNPs surrounding the SCA10 locus showed a disease haplotype consistent with the previously described "SCA10 haplotype". This case suggests that the SCA10 expansion represents an early mutation event that possibly occurred during the initial peopling of the Americas.
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Lees syndrome: a case series.
Arq Neuropsiquiatr
PUBLISHED: 06-03-2011
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We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinsons disease on dopamine replacement therapies, now designated as Lees syndrome.
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Where was Joseph Babinski born?
Arq Neuropsiquiatr
PUBLISHED: 06-01-2011
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There is controversy in the neurological literature about where Joseph Babinski was born, including a myth propounded by various important authors that he was born in Lima, Peru. However, according to the most consistent biographical data, he was in fact born in Paris, France, and became a medical celebrity there and in Poland as well as around the world.
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Botulinum toxin type A and cervical dystonia: a seven-year follow-up.
Arq Neuropsiquiatr
PUBLISHED: 05-20-2011
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Most cases of cervical dystonia (CD) are idiopathic, and focal injections of botulinum toxin A (BoNT/A) are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS) at baseline assessment (2001-2002) and follow-up (2008-2009) was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6 ± 6.6 and 17.7 ± 4.8; p<0.05). There was no improvement in the severity of cervical pain (p=0.43). In conclusion, BoNT/A was a safe and effective long-term therapy for CD.
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Wilsons disease in southern Brazil: a 40-year follow-up study.
Clinics (Sao Paulo)
PUBLISHED: 05-10-2011
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Long-term data on the clinical follow-up and the treatment effectiveness of Wilsons disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilsons disease patients from southern Brazil during a 40-year follow-up period.
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Neurological diagnoses in the emergency room: differences between younger and older patients.
Arq Neuropsiquiatr
PUBLISHED: 05-04-2011
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Neurological diseases are prevalent in the emergency room (ER). The aim of this study was to compare the neurological diagnoses between younger and older patients evaluated in the ER of a tertiary care hospital.
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Neuroleptic malignant syndrome.
Arq Neuropsiquiatr
PUBLISHED: 05-01-2011
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Neuroleptic malignant syndrome (NMS) is a potentially fatal adverse event associated with the use of antipsychotics (AP). The objective of this study was to investigate the profile of cases of NMS and to compare our findings with those published in similar settings. A series of 18 consecutive patients with an established diagnosis of NMS was analyzed, gathering data on demography, symptoms and signs. Two thirds of all cases involved woman with a past medical history of psychiatric disorder receiving relatively high doses of AP. The signs and symptoms of NMS episodes were similar to those reported in other series and only one case had a fatal outcome, the remaining presenting complete recovery. As expected, more than two thirds of our cases were using classic AP (68%), however the clinical profile of these in comparison with those taking newer agent was similar. Newer AP also carry the potential for NMS.
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Wittgenstein, medicine and neuropsychiatry.
Arq Neuropsiquiatr
PUBLISHED: 04-22-2011
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A historical review is presented of the link between Ludwig Wittgenstein, considered the most important philosopher of the 20th century, and medicine, particularly neurology and psychiatry. Wittgenstein worked as a porter at Guys Hospital in London, and then as a technician at the Royal Victoria Infirmary in Newcastle. He wrote about his important insights into language, and neuroscience. It has been suggested that he had Asperger syndrome and a possible movement disorder (mannerisms).
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Américo Negrette and Huntingtons disease.
Arq Neuropsiquiatr
PUBLISHED: 04-10-2011
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The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntingtons disease.
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Spinocerebellar ataxia type 10 - A review.
Parkinsonism Relat. Disord.
PUBLISHED: 04-02-2011
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Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. SCA10 represents a rare form of SCA, until now only described in Latin America, particularly in Mexico, Brazil, Argentina and Venezuela. In Mexico and Brazil SCA10 represents the second most common type of autosomal dominant cerebellar ataxia. The phenotype described in Mexico, is characterized by the association of cerebellar ataxia with epilepsy, while in Brazil the SCA10 phenotype is that of a pure cerebellar ataxia. As yet unidentified genotypic variables may account for this phenotypic difference.
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Parakinesia brachialis oscitans: report of three cases.
Parkinsonism Relat. Disord.
PUBLISHED: 03-08-2011
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The term parakinesia brachialis oscitans (PBO) was coined recently to describe cases of hemiplegia in which spontaneous yawning causes involuntary raising of the affected upper limb. The authors report three additional cases of PBO adding new phenomenological findings to the syndrome, discussing possible physiopathology of this phenomenon.
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Botulinum toxin type-A effect as a preemptive treatment in a model of acute trigeminal pain: a pre-clinical double-blind and placebo-controlled study.
Arq Neuropsiquiatr
PUBLISHED: 03-02-2011
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The purpose of this study was to investigate if botulinum neurotoxin type-A (BoNT/A) had a preemptive antinociceptive effect in a formalin-induced orofacial pain model (FT). To test this hypothesis, male Rattus norvegicus were injected with isotonic saline solution 0.9% or BoNT/A administered as a 40 ?l bolus, lateral to their nose, at 24 hours, 8, 15, 22, 29 or 36 days pre-FT. The procedures were repeated 42 days later. Influence on motor activity was assessed through the open-field test. Pain scores corresponded to the time spent rubbing and flicking the injected area. Animals pre-treated with BoNT/A at the first protocol (8 days subgroup) showed reduced inflammatory scores (p=0.011). For the other groups no significant results were observed at any phase. Motor activity was similar in both groups. BoNT/A showed to be effective preventing inflammatory pain up to eight days after the first treatment, an effect not reproduced on the second dose administration.
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Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedys disease).
Clinics (Sao Paulo)
PUBLISHED: 02-25-2011
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To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedys disease.
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Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2).
Arq Neuropsiquiatr
PUBLISHED: 02-13-2011
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To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3.
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Historical aphasia cases: "Tan-tan", "Vot-vot", and "Cré nom!".
Arq Neuropsiquiatr
PUBLISHED: 01-06-2011
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We describe three cases of aphasia in patients who were internationally famous historical personalities, such as the case of Mr. Leborgne ("Tan") published by Paul Broca in 1861, which became a reference for the study of aphasias. The other cases described here are those of the Russian revolutionary and politician Vladimir Ilyitch Ulianov (Lenin) ("Vot-vot") and the French poet Charles Baudelaire ("Cré nom!"). Besides their historical relevance and the clinical picture of aphasia, these three cases share as a common feature the occurrence of speech automatisms or stereotypes.
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Cross-cultural influences on psychogenic movement disorders - a comparative review with a Brazilian series of 83 cases.
Clin Neurol Neurosurg
PUBLISHED: 10-04-2010
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To describe the profile and presentation of a Brazilian series of psychogenic movement disorders (PMD) patients and to perform a comparative analysis with the previous series published worldwide.
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Olfactory heterogeneity in LRRK2 related Parkinsonism.
Mov. Disord.
PUBLISHED: 09-07-2010
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LRRK2 mutations can cause familial and sporadic Parkinsons disease (PD) with Lewy-body pathology at post-mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin Sticks (SS-16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS-16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for ? = -4.7 to -1.7) and lower than in controls (p = 0.007, 95% CI for ? = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD.
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Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.
Mov. Disord.
PUBLISHED: 09-07-2010
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Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.
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[Hemiballism-hemichorea with non-ketotic hyperglycemia: movement disorder related to diabetes mellitus].
Arq Bras Endocrinol Metabol
PUBLISHED: 06-04-2010
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Diabetes mellitus, especially when not under control, can lead to several neurological complications being the development of involuntary movements one of the rarest presentations. Nonketotic hyperglycemia in aged patients who present with ballismus-chorea movements and cerebral image alterations in computerized tomography (CT) and magnetic resonance constitute a syndrome of recent characterization and few cases in literature. We present a case of a 75 year-old male patient admitted with history of hemiballismus-hemichorea movements, hyperglycemia, glycated hemoglobin of 14.4% and CT with a hyperdense area in the topography of the right basal ganglia. After glycemic control, the neurological signs resolved completely and the initial hyperdense lesion disappeared.
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Botulinum neurotoxin type-A for primary stabbing headache: an open study.
Arq Neuropsiquiatr
PUBLISHED: 05-14-2010
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Primary stabbing headache is an ultra-short headache, associated with primary headaches, more prevalent in women and with a poor response to therapy. The effect of botulinum neurotoxin type-A (BoNTA) on primary stabbing headache was investigated in 24 patients. Three patients showed complete remission. Nineteen patients showed a decrease in their primary stabbing headaches that started in the second week, and that was sustained during approximately 63 days. In two patients BoNTA showed no therapeutic effect. The BoNTA seems to be an excellent therapeutic option for primary stabbing headache.
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Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
PLoS Genet.
PUBLISHED: 05-12-2010
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We have identified a large expansion of an ATTCT repeat within intron 9 of ATXN10 on chromosome 22q13.31 as the genetic mutation of spinocerebellar ataxia type 10 (SCA10). Our subsequent studies indicated that neither a gain nor a loss of function of ataxin 10 is likely the major pathogenic mechanism of SCA10. Here, using SCA10 cells, and transfected cells and transgenic mouse brain expressing expanded intronic AUUCU repeats as disease models, we show evidence for a key pathogenic molecular mechanism of SCA10. First, we studied the fate of the mutant repeat RNA by in situ hybridization. A Cy3-(AGAAU)(10) riboprobe detected expanded AUUCU repeats aggregated in foci in SCA10 cells. Pull-down and co-immunoprecipitation data suggested that expanded AUUCU repeats within the spliced intronic sequence strongly bind to hnRNP K. Co-localization of hnRNP K and the AUUCU repeat aggregates in the transgenic mouse brain and transfected cells confirmed this interaction. To examine the impact of this interaction on hnRNP K function, we performed RT-PCR analysis of a splicing-regulatory target of hnRNP K, and found diminished hnRNP K activity in SCA10 cells. Cells expressing expanded AUUCU repeats underwent apoptosis, which accompanied massive translocation of PKCdelta to mitochondria and activation of caspase 3. Importantly, siRNA-mediated hnRNP K deficiency also caused the same apoptotic event in otherwise normal cells, and over-expression of hnRNP K rescued cells expressing expanded AUUCU repeats from apoptosis, suggesting that the loss of function of hnRNP K plays a key role in cell death of SCA10. These results suggest that the expanded AUUCU-repeat in the intronic RNA undergoes normal transcription and splicing, but causes apoptosis via an activation cascade involving a loss of hnRNP K activities, massive translocation of PKCdelta to mitochondria, and caspase 3 activation.
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Coma scales: a historical review.
Arq Neuropsiquiatr
PUBLISHED: 05-01-2010
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To describe the most important coma scales developed in the last fifty years.
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The differential diagnoses of parkinsonism: findings from a cohort of 1528 patients and a 10 years comparison in tertiary movement disorders clinics.
Clin Neurol Neurosurg
PUBLISHED: 02-24-2010
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To investigate the etiologic diagnoses of parkinsonism, underlining aspects of each form and comparing our findings with those published in a similar setting, 10 years before.
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How many Babinskis signs are there?
Arq Neuropsiquiatr
PUBLISHED: 02-13-2010
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In addition to the famous sign described by Joseph Babinski, which is also known as Babinskis reflex, there are references in the literature to various other signs described by this famous disciple of J-M Charcot. This article reviews all the neurological signs described by Babinski.
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Increased frequency and range of sexual behavior in a patient with Parkinsons disease after use of pramipexole: a case report.
J Sex Med
PUBLISHED: 08-15-2009
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Several recent reports have linked the use of dopamine agonists (DAs) to a variety of compulsive behaviors in patients with Parkinsons disease (PD). These inappropriate behaviors may include pathological gambling, compulsive shopping, and hypersexuality.
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Professor Karl-Axel Ekbom and restless legs syndrome.
Parkinsonism Relat. Disord.
PUBLISHED: 08-11-2009
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The authors provide an historical review of restless legs syndrome, emphasizing the contribution of Professor Karl-Axel Ekbom, the Swedish neurologist who made the first detailed clinical description of this disease.
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Spinocerebellar ataxias.
Arq Neuropsiquiatr
PUBLISHED: 08-09-2009
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Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
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Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
Arq Neuropsiquiatr
PUBLISHED: 07-28-2009
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The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies. We examined blood sample from 154 asymptomatic blood donors and 115 individuals with progressive ataxias. PCR products were submitted to capillary electrophoresis. In the blood donors, the ranges of the five loci were: SCA1, 19 to 36 (CAG)n; SCA2, 6 to 28 (CAG)n; SCA3, 12 to 34 (CAG)n; SCA6, 2 to 13 (CAG)n; and SCA7, 2 to 10 (CAG)n. No deviations from Hardy-Weinberg equilibrium were detected. In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1. The remaining 80 cases (69.56%) have different diagnoses from the type here studied. These data defined the alleles and their frequencies, as well as demonstrated their stability in the population not affected. The molecular diagnosis test confirmed the clinical diagnosis in 28/45 cases and classified another 7/70 from the clinical unclassified ataxias group.
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Lhermittes sign and vitamin B12 deficiency: case report.
Sao Paulo Med J
PUBLISHED: 06-25-2009
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Lhermittes sign, a classical neurological sign, is a rare manifestation of vitamin B12 deficiency. The aim here was to report on a case of an elderly patient with vitamin B12 deficiency whose first clinical manifestation was the presence of Lhermittes sign.
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Stiff-three limbs syndrome.
Mov. Disord.
PUBLISHED: 06-09-2009
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We report a patient diagnosed with stiff-three limbs syndrome, without continuous motor unit activity in the electrophysiologic exam, with successful treatment with intravenous immunoglobulin.
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Attention deficit hyperactivity disorder and the behavior of "Che" Guevara.
J Clin Neurosci
PUBLISHED: 06-03-2009
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Attention deficit hyperactivity disorder (ADHD) is a childhood onset neuropsychiatric disorder characterized by inattention, hyperactivity and impulsivity. ADHD is related to several co-morbidities, such as opposition defiant disorder, conduct disorder, mood and anxiety disturbances, as well as tics and Tourettes syndrome. The objective of this report is to shed an alternative light on the personality of Ernesto "Che" Guevara, discussing whether he might have had ADHD. Several published biographies of Che Guevara were reviewed. Established ADHD criteria (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition), were used as a framework to evaluate Ches behaviour. In addition, we compared the main features of Ches reported behaviour to the set of abnormalities leading to the diagnosis of ADHD in adults proposed by Wender and colleagues and known as the UTAH ADHD criteria. Analysis of the most renowned biographies of Ernesto "Che" Guevara suggests that he may have had ADHD.
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Botulinum toxin type A in the treatment of lower-limb spasticity in children with cerebral palsy.
Arq Neuropsiquiatr
PUBLISHED: 03-31-2009
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We evaluated the safety and effectiveness of botulinum toxin A (BoNT/A) in the treatment of spasticity in 20 children with spastic diplegic cerebral palsy (CP). All the patients received injections in the gastrocnemius and soleus, and 15 received injections in the adductors. The total dose varied from 70 to 140 U (99.75+/-16.26 U), or 7.45+/-2.06 U/kg per patient. The treatment improved the patients walking and gait pattern significantly. There was also a significant alteration in the heel-ground distance and increased motion of the ankle joint. These structural changes in the feet were sustained until the end of the follow-up, although the same was not observed for the functional parameters. Three patients complained of weakness in the lower limbs. In conclusion, BoNT/A is safe and effective when used in a single session of injections and produces a sustained structural modification of the lower limbs. However, functional changes are temporary and are only observed during the peak effect of the drug.
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CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.
Clin Neurol Neurosurg
PUBLISHED: 03-10-2009
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Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder characterized by cerebellar ataxia with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia. From a clinical standpoint, SCA 8 and the cerebellar form of multiple system atrophy (MSA-C) share several common features.
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Charcots skepticism.
Arq Neuropsiquiatr
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This paper brings a short review about a peculiar characteristic of Professor Charcot, the father of neurology: the skepticism, emphasizing his personal view regarding the prognosis of several neurological conditions.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Neurology
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The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions (IC) (PKD/IC syndrome). Episodic neurologic disorders, such as epilepsy, migraine, and paroxysmal movement disorders, often coexist and are thought to have a shared channel-related etiology. To investigate further the frequency, spectrum, and phenotype of PRRT2 mutations, we analyzed this gene in 3 large series of episodic neurologic disorders with PKD/IC, episodic ataxia (EA), and hemiplegic migraine (HM).
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JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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