Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
复制标题
DOI：
10.1002/mds.20529
复制
发表时间：
2005-11-01
影响因子：
8.6
通讯作者：
Tabrizi, SJ
中科院分区：
文献类型：
--
作者：
Loy, CT;Sweeney, VG;Tabrizi, SJ
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. (c) 2005 Movement Disorder Society.
