De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

doi:10.1093/hmg/7.11.1809

Back to search

Article

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Human molecular genetics - 1 Oct 1998

Stevanin G, Giunti P, Belal G D, Dürr A, Ruberg M, Wood N, Brice A

Abstract excerpt

Spinocerebellar ataxia 7 (SCA7) is the eighth neurodegenerative disorder caused by a translated CAG repeat expansion. Normal SCA7 alleles carry from four to 35 CAG repeats, whereas pathological alleles carry from 37 to approximately 200. Intermediate alleles (IAs), with 28-35 repeats in the SCA7...

Topics

Alleles
Anticipation, Genetic
Female
Haplotypes
Humans
Male
Meiosis
Mitosis
Spinocerebellar Degenerations
Trinucleotide Repeat Expansion

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.