Article
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Human molecular genetics - 1 May 1997
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre A S, Yahyaoui M, Hentati F, Vernant J C, Klockgether T, Mandel J L, Agid Y, Brice A
Abstract excerpt
Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. One hundred and eighty four index patients with autosomal dominant cerebellar ataxia type I were screened for this mutation. We found expansion in 109 patients from 30 families of...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Ataxins
- Child
- Deglutition Disorders
- Dystonia
- Female
- Gene Frequency
- Gonads
- Humans
- Male
- Middle Aged