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BMJ Case Rep. 2012 Mar 20;2012. pii: bcr1020115061. doi: 10.1136/bcr.10.2011.5061.

Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2.

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  • 1Neurology Department, National Taiwan University Hospital, Taipei, Taiwan.

Abstract

Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder, characterised by ataxic gait, slow saccades and peripheral neuropathy. Levodopa-responsive parkinsonism could be a clinical phenotype of SCA2, especially those of Chinese origin. In addition to these motor symptoms, SCA2 has been associated with depression and cognitive dysfunction, with only rare reports of psychosis. The authors report the presence of severe psychosis, major depression and multiple system atrophy in affected subjects of a Taiwanese family with intermediate CAG repeats within the ATXN2 gene. The identification of this rare and distinctive SCA2 phenotype expands the current knowledge of the phenotypic variability of SCA2 and suggests that modifier genes could influence the clinical phenotype of SCA2.

PMID:
22605703
[PubMed - indexed for MEDLINE]
PMCID:
PMC3316827
Free PMC Article

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