Genetic background of apparently idiopathic sporadic cerebellar ataxia (original) (raw)

Abstract

Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 and 12, and the GAA repeat of the frataxin gene in 124 patients apparently suffering from idiopathic sporadic ataxia, including 20 patients with the clinical diagnosis of multiple system atrophy. Patients with a positive family history, a typical Friedreich phenotype, or symptomatic ataxia were excluded. Genetic analyses uncovered the most common Friedreich mutation in 10 patients with an age at onset between 13 and 36 years. The SCA6 mutation was present in nine patients with disease onset between 47 and 68 years of age. The CTG repeat associated with SCA8 was expanded in three patients. One patient had SCA2 attributable to a de novo mutation from a paternally transmitted, intermediate allele. We did not identify the SCA1, SCA3, SCA7 or SCA12 mutation in idiopathic sporadic ataxia patients. No trinucleotide repeat expansion was detected in the MSA subgroup. This study has revealed the genetic basis in 19% of apparently idiopathic ataxia patients. SCA6 is the most frequent mutation in late onset cerebellar ataxia. The frataxin trinucleotide expansion should be investigated in all sporadic ataxia patients with onset before age 40, even when the phenotype is atypical for Friedreich's ataxia.

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Authors and Affiliations

1. Neurologische Klinik der Ruhr-Universität, St. Josef Hospital, Gudrunstraße 56, 44791 Bochum, Germany, Germany
   Ludger Schöls, Sandra Szymanski, Sören Peters & Horst Przuntek
2. Institute of Human Molecular Genetics, Ruhr-Universität-Bochum, Bochum, Germany, Germany
   Jörg T. Epplen
3. Institute of Human Genetics, University of Essen, Essen, Germany, Germany
   Cornelia Hardt
4. Department of Medical Genetics, Children´s Hospital, University of Rostock, Rostock, Germany, Germany
   Olaf Riess

Authors

1. Ludger Schöls
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2. Sandra Szymanski
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3. Sören Peters
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4. Horst Przuntek
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5. Jörg T. Epplen
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6. Cornelia Hardt
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7. Olaf Riess
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Correspondence toLudger Schöls.

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Schöls, L., Szymanski, S., Peters, S. et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia.Hum Genet 107, 132–137 (2000). https://doi.org/10.1007/s004390000346

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• Received: 09 March 2000
• Accepted: 09 June 2000
• Published: 03 August 2000
• Issue Date: August 2000
• DOI: https://doi.org/10.1007/s004390000346

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