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Huntington Disease: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive Chorea and Dementia in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; Depression; Hallucinations; and Delusions. Eventually intellectual impairment; loss of fine motor control; Athetosis; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including Seizures; Ataxia; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)

Genetic Lingo

JoVE 10771

An organism is diploid if it inherits two variants, or alleles, of each gene, one from each parent. These two alleles constitute the genotype for a given gene. The term genotype is also used to refer to an organism’s complete set of genes. A diploid organism with two identical alleles has a homozygous genotype, whereas two different alleles indicates a heterozygous genotype. Observable traits arising from genotypes are called phenotypes, which can also be influenced by environmental factors. An allele is dominant if only one copy is needed to manifest an associated phenotype and recessive if two copies are required for phenotypic expression. Diploid organisms, including humans, most other animals, and many plants, have a duplicate set of chromosomes in somatic (non-sex) cells. These chromosome duplicates are homologous, with similar lengths, centromere positions, and gene locations. Diploid organisms inherit two versions of each gene, one from each parent. These two gene variants, or alleles, are situated at the same relative locus, or position, on two homologous chromosomes. Each chromosome contains many genetic loci, and there are often several possible alleles of a given gene. The two alleles inherited by a diploid organism constitute its genotype at the locus. The term genotype also refers to an organism’s total set of g

 Core: Classical and Modern Genetics

Combined Invasive Subcortical and Non-invasive Surface Neurophysiological Recordings for the Assessment of Cognitive and Emotional Functions in Humans

1Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine-University, 2Department of Neurology, Center for Movement Disorders and Neuromodulation, University Clinic Düsseldorf, 3Department of Neurosurgery, Functional Neurosurgery and Stereotaxy, Center for Movement Disorders and Neuromodulation, University Clinic Düsseldorf

JoVE 53466

 Behavior

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

1The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 2Center for Imaging Science, Johns Hopkins University, 3Institute for Computational Medicine, Johns Hopkins University, 4Department of Applied Mathematics and Statistics, Johns Hopkins University, 5Division of Neurobiology, Departments of Psychiatry, Neurology, Neuroscience and Pharmacology, and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, 6F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, 7Department of Biomedical Engineering, Johns Hopkins University

JoVE 57256

 Medicine
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