Article
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2005
Loy Clement T, Sweeney Mary G, Davis Mary B, Wills Adrian J, Sawle Guy V, Lees Andrew J, Tabrizi Sarah J
Abstract excerpt
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,...
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