Document Detail

Should genetic testing for SCAs be included in the diagnostic workup for MSA?
MedLine Citation:
PMID:  25298309     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To examine the prevalence of mutations in spinocerebellar ataxia (SCA) genes in patients who were clinically diagnosed with multiple system atrophy (MSA).
METHODS: Genetic tests for SCA were performed in 302 of 528 patients who met the diagnostic criteria for MSA based on clinical features. Generally, when a patient had cerebellar symptoms or cerebellar atrophy on neuroimaging, genetic tests for SCA types 1, 2, 3, 6, 7, and 17, and dentatorubropallidoluysian atrophy were done, and when a patient had parkinsonism without cerebellar symptoms, genetic tests for SCA types 2, 3, and 17 were done.
RESULTS: Mutations in SCA genes were found in 22 of the 302 patients (7.3%) with SCA17 comprising more than half of the mutation-positive cases. The age at disease onset in these 22 patients was not different compared with the 280 patients without mutations (55.9 ± 9.3 vs 59.2 ± 8.9, p = 0.102). All patients had urinary symptoms, and 10 patients also had orthostatic dizziness or orthostatic hypotension. A family history was reported in only 3 patients. Of note, dream enactment behavior suggesting REM sleep behavior disorder was reported in 9 of the 11 patients (81.8%) asked.
CONCLUSIONS: The high proportion of patients with SCA mutations in this study indicates that genetic testing for SCA should be included for patients with MSA, especially for patients with cerebellar dysfunctions.
Han-Joon Kim; Beom S Jeon; Junghwan Shin; Woong-Woo Lee; Hyeyoung Park; Yu Jin Jung; Gwanhee Ehm
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-8
Journal Detail:
Title:  Neurology     Volume:  -     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-9     Completed Date:  -     Revised Date:  2014-10-10    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 American Academy of Neurology.
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