학술논문
PSP‐Richardson's Syndrome as a Rare Phenotypic Expression of Very Late‐Onset Huntington's Disease: A Case Report.
Document Type
Article
Source
Subject
*HUNTINGTON disease
*GENE expression
*MOVEMENT disorders
*PROGRESSIVE supranuclear palsy
*LEWY body dementia
*SYNDROMES
*PHENOTYPES
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Language
ISSN
2330-1619
Abstract
This article discusses a rare case of Huntington's disease (HD) presenting as progressive supranuclear palsy-Richardson's syndrome (PSP-RS) in a 79-year-old patient. HD is typically characterized by chorea, but this patient exhibited severe and rapidly progressive parkinsonism without chorea. The patient had a family history of HD, and genetic testing confirmed the presence of pathogenic HTT expansion. The article explores different hypotheses for the atypical presentation of HD and emphasizes the importance of considering genetic testing for HD in patients with atypical parkinsonism, even in the absence of chorea. [Extracted from the article]