Portal de Periódicos da CAPES

Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

2005; Wiley; Volume: 20; Issue: 11 Linguagem: Inglês

10.1002/mds.20529

1531-8257

Clement T. Loy, Mary G. Sweeney, Mary B. Davis, Adrian Wills, G. V. Sawle, Andrew Lees, Sarah J. Tabrizi,

Nuclear Structure and Function

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