recording-horizontal-saccade-performances-accurately-neurological

Recording Horizontal Saccade Performances Accurately in Neurological Patients Using Electro-oculogram

Electro-oculogram (EOG) has been widely used for clinical eye movement recording, especially horizontal saccades, although the video-oculography (VOG) has ...

Kyorin University

Patients with multiple system atrophy (MSA) are classified into those mainly manifesting cerebellar ataxia (MSA-C) and those mainly manifesting parkinsonism (MSA-P). Pathophysiological bases of these subtypes remain unclear. We hypothesized that MSA-C patients would resemble spinocerebellar degeneration patients and MSA-P patients would resemble Parkinson's disease (PD) patients in saccade abnormalities.

Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology.

Patients with spinocerebellar ataxia with pure cerebellar presentation (SCD) and multiple system atrophy (MSA-C) show similar symptoms at early stages, although cerebellofugal pathology predominates in SCD, and cerebellopetal pathology in MSA-C. We studied whether saccade velocity profiles, which reflect the accelerating and braking functions of the cerebellum, can differentiate these two disorders.

Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles.

Saccades abnormalities in posterior cortical atrophy - A case report.

Responses to continuous theta burst stimulation (cTBS) applied to the human primary motor cortex are highly variable between individuals. However, little is known about how to improve the after-effects of cTBS by adjusting the protocol characteristics.

The intensity of continuous theta burst stimulation, but not the waveform used to elicit motor evoked potentials, influences its outcome in the human motor cortex.

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located. This discovery that expansions of noncoding repeats lead to neuronal dysfunction responsible for myoclonic tremor and epilepsy extends the understanding of diseases with such repeat expansion.

Article	Year
Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pat... Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology\| PubMed ID: 26350408	2016
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology\| PubMed ID: 27866117	2017
Saccades abnormalities in posterior cortical atrophy - A case report. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology\| PubMed ID: 28063320	2017
The intensity of continuous theta burst stimulation, but not the waveform used to elicit motor evoked potentials, influences its outcome in the human motor cortex. Brain stimulation\| PubMed ID: 29258807	2018
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nature genetics\| PubMed ID: 29507423	2018

Satomi Inomata-Terada

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