RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
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چکیده
منابع مشابه
Oculopalatal tremor and severe late-onset cerebellar ataxia.
Following four recurrent bleedings of a mesencephalic cavernoma within 10 years (figure 1A), a 62-year-old woman demonstrated left kinetic cerebellar syndrome. She then developed oculopalatal tremor (OPT) associated with bilateral inferior olive hyperintensity (figure 1B). Gamma knife radiation was performed, but she developed severe cerebellar ataxia. OPT secondary to brainstem strokes and ass...
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UNLABELLED The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. METHOD 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years....
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Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...
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Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes i...
متن کاملGait in patients with cerebellar ataxia.
The gait pattern in 10 patients with cerebellar degenerations was studied and the results were compared with 10 matched normal subjects, seeking the principal patterns in this disorder. Gait at natural speed was studied in a biomechanics laboratory using a video-based kinematic data acquisition system for measuring body movements. Patients showed a reduced step and stride length with a trend to...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2020
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-020-0807-x