SCA17 homozygote showing Huntington's disease‐like phenotype
- 22 January 2004
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 55 (2) , 281-286
- https://doi.org/10.1002/ana.10824
Abstract
We report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG‐repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea. Neuronal loss was relatively restricted and most prominent in the Purkinje cell layer and striatum; however, intranuclear neuronal polyglutamine accumulation was widespread, with a high frequency in the cerebral cortex and striatum.Keywords
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