Abstract | BACKGROUND: OBJECTIVES: METHODS: We analyzed this repeat in 122 patients with autosomal dominant cerebellar ataxia, or sporadic ataxia, and compared allele distribution with 750 alleles seen in 2 healthy control groups and 172 alleles in patients with Parkinson disease. RESULTS: The distribution of alleles in ataxia patients and controls was significantly different by Wilcoxon rank test (P <.001). Twenty-two or more polyglutamine tracts were more common in ataxia patients compared with controls by chi2 analysis (P<.001). CONCLUSION:
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Authors | K P Figueroa, P Chan, L Schöls, C Tanner, O Riess, S L Perlman, D H Geschwind, S M Pulst |
Journal | Archives of neurology
(Arch Neurol)
Vol. 58
Issue 10
Pg. 1649-53
(Oct 2001)
ISSN: 0003-9942 [Print] United States |
PMID | 11594924
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- KCNN3 protein, human
- Peptides
- Potassium Channels
- Potassium Channels, Calcium-Activated
- Small-Conductance Calcium-Activated Potassium Channels
- polyglutamine
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Topics |
- Age of Onset
- Aged
- Aged, 80 and over
- Alleles
- Ataxia
(genetics)
- Base Sequence
- Brain
(physiopathology)
- Female
- Humans
- Male
- Parkinson Disease
(genetics)
- Peptides
(genetics)
- Polymorphism, Genetic
- Potassium Channels
(genetics)
- Potassium Channels, Calcium-Activated
- Reference Values
- Schizophrenia
(genetics)
- Small-Conductance Calcium-Activated Potassium Channels
- Spinocerebellar Ataxias
(classification, genetics)
- Spouses
- Trinucleotide Repeats
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