Unusual association of diseases/symptoms: Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2
Journal
BMJ Case Reports
Pages
1-5
Date Issued
2012
Author(s)
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.
SDGs
Other Subjects
levodopa; risperidone; sertraline; affective psychosis; aged; akinesia; anxiety disorder; article; ATXN2 gene; auditory hallucination; bradykinesia; brain atrophy; CAG repeat; case report; cognitive defect; differential diagnosis; disease severity; dose response; family history; female; follow up; gene; gene function; genetic screening; human; low drug dose; major depression; male; muscle rigidity; nuclear magnetic resonance imaging; parkinsonism; persecutory delusion; phenotypic variation; polyneuropathy; priority journal; psychologic assessment; schizophrenia; Shy Drager syndrome; single photon emission computer tomography; spinocerebellar ataxia type 2; spinocerebellar degeneration; Taiwan; treatment outcome; visual hallucination
Publisher
BMJ Publishing Group
Type
journal article