SCA17 homozygote showing Huntington's disease-like phenotype.
case_report · Level V
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- Record sourced from PubMed, PMID 14755733.
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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.
Medical subject headings
- Brain
- Homozygote
- Phenotype
- Spinocerebellar Ataxias
- TATA-Box Binding Protein