SCA2 trinucleotide expansion in German SCA patients

Olaf Riess, Franco A. Laccone, Suzana Gispert, Ludger Schöls, Christine Zühlke, Ana Maria Menezes Vieira-Saecker, Susanne Herlt, Karl Wessel, Jörg T. Epplen, Bernhard Weber, Friedmar Kreuz, Soheyla Chahrokh-Zadeh, Alfons Meindl, Astrid Lunkes, Jorge Aguiar, Milan Macek, Alice Krebsová, Milan Macek, Katrin Bürk, Sigrid TinschertIsolde Schreyer, Stefan M. Pulst, Georg Auburger

70 Citations (Scopus)


Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neu rodegenerative disorders which lead to progressive cerebellar ataxia. A gene responsible for SCA type 2 has been mapped to human chromosome 12 and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. We investigated the (CAG)n repeat length of the SCA2 gene in 842 patients with sporadic ataxia and in 96 German families with dominantly inherited SCA which do not harbor the SCA1 or MJD1/SCA3 mutation, respectively. The SCA2 (CAG)n expansion was identified in 71 patients from 54 families. The (CAG)n stretch of the affected allele varied between 36 and 64 trinucleotide units. Significant repeat expansions occurred most commonly during paternal transmission. Analysis of the (CAG)n repeat lengths with the age of onset in 41 patients revealed an inverse correlation. Two hundred and forty-one apparently healthy octogenerians carried alleles between 16 and 31 repeats. One 50-year old, healthy individual had 34 repeats; she had transmitted an expanded allele to her child. The small difference between 'normal' and disease alleles makes it necessary to define the extreme values of their ranges. With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany.

Original languageEnglish
Issue number1
Pages (from-to)59-64
Number of pages6
Publication statusPublished - 1997

Research Areas and Centers

  • Research Area: Medical Genetics


Dive into the research topics of 'SCA2 trinucleotide expansion in German SCA patients'. Together they form a unique fingerprint.

Cite this