TY  - JOUR
A1  - Lindblad, K
A1  - Savontaus, M L
A1  - Stevanin, G
A1  - Holmberg, M
A1  - Digre, K
A1  - Zander, C
A1  - Ehrsson, H
A1  - David, G
A1  - Benomar, A
A1  - Nikoskelainen, E
A1  - Trottier, Y
A1  - Holmgren, G
A1  - Ptacek, L J
A1  - Anttinen, A
A1  - Brice, A
A1  - Schalling, M
T1  - An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
Y1  - 1996/10/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 965 
EP  - 971 
DO  - 10.1101/gr.6.10.965 
VL  - 6 
IS  - 10 
UR  - http://genome.cshlp.org/content/6/10/965.abstract 
N2  - 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. 
ER  -