@article{Lindblad01101996,
author = {Lindblad, K and Savontaus, M L and Stevanin, G and Holmberg, M and Digre, K and Zander, C and Ehrsson, H and David, G and Benomar, A and Nikoskelainen, E and Trottier, Y and Holmgren, G and Ptacek, L J and Anttinen, A and Brice, A and Schalling, M}, 
title = {An expanded CAG repeat sequence in spinocerebellar ataxia type 7.},
volume = {6}, 
number = {10}, 
pages = {965-971}, 
year = {1996}, 
doi = {10.1101/gr.6.10.965}, 
abstract ={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.}, 
URL = {http://genome.cshlp.org/content/6/10/965.abstract}, 
eprint = {http://genome.cshlp.org/content/6/10/965.full.pdf+html}, 
journal = {Genome Research} 
}