An expanded CAG repeat sequence in spinocerebellar ataxia type 7

Lindblad, K (author)

Savontaus, ML (author)

Stevanin, G (author)

Holmberg, M (author)

Digre, K (author)

Zander, C (author)

David, G (author)

Benomar, A (author)

Nikoskelainen, E (author)

Trottier, Y (author)

Holmgren, G (author)

Ptacek, LJ (author)

Anttinen, A (author)

Brice, A (author)

(creator_code:org_t)

1996-10-01
1996
English.
In: Genome research. - : Cold Spring Harbor Laboratory. - 1088-9051. ; 6:10, s. 965-971

Related links:: http://genome.cshlp....; show more...; http://kipublication...; https://doi.org/10.1...; show less...

Abstract Subject headings

Expanded CAG repeat sequences have been identified in the coding region of genes mutated in several neurodegenerative disorders, including spinocerebellar ataxia type 1 and Machado-Joseph disease. In all disorders described to date the CAG expansion codes for an elongated polyglutamine chain. An increased polyglutamine chain size leads to a more severe disease, thus correlating with the genetic anticipation seen in repeat expansion disorders. Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant spinocerebellar ataxia with anticipation and a progressive degeneration of the cerebellar cortex. Using repeat expansion detection (RED), a method in which a thermostable ligase is used to detect repeat expansions directly from genomic DNA, we have analyzed 8 SCA7 families for the presence of CAG repeat expansions. RED products of 150-240 bp were found in all affected individuals and found to cosegregate with the disease (P < 0.000001, n = 66), indicating strongly that a CAG expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease, we were able to estimate the average expansion size in SCA7 to be 64 CAG copies.

By the author/editor: Lindblad, K; Savontaus, ML; Stevanin, G; Holmberg, M; Digre, K; Zander, C; show more...; Ehrsson, HH; David, G; Benomar, A; Nikoskelainen, E; Trottier, Y; Holmgren, G; Ptacek, LJ; Anttinen, A; Brice, A; Schalling, M; show less...

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