Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
✍ Scribed by Clement T. Loy; Mary G. Sweeney; Mary B. Davis; Adrian J. Wills; Guy V. Sawle; Andrew J. Lees; Sarah J. Tabrizi
- Book ID
- 102505981
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 78 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
We report on a 50‐year‐old woman who presented with an 8‐year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA‐binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA‐17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA‐17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA‐17. © 2005 Movement Disorder Society