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Brain, Vol. 117, No. 4, 645-649, 1994
© 1994 Guarantors of Brain

research-article

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

P. Giunti1, M. G. Sweeney1, M. Spadaro2, C. Jodice3, A. Novelletto3, P. Malaspina3, M. Frontali4 and A. E. Harding1,0

1University Department of Clinical Neurology, Institute of Neurology London, UK 2Istituto di Clinica delle Mallattie nervose e Mentali, University ‘La Sapienza’ Rome, Italy 3Dipartimento di Biologia, University ‘Tor Vergata’ Rome, Italy 4AIstituto di Medicina Sperimentale Rome, Italy

Correspondence to: 0Correspondence to: Professor A. E. Harding, Institute of Neurology, Queen Square, London WC1N 3BG, UK

Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to the SCA1 locus on chromosome 6. Most of the families were too small for linkage analysis. The mutation was only found in ADCA type I, in 19 out of 38 such kindreds investigated (50%). It was slightly more common in Italian (59%) than British (50%) families, and was also found in Malaysian, Bangladeshi and Jamaican kindreds. Overall, ADCA type I patients with theexpansion had a lower incidence of hyporeflexia and facial fasciculation than those without. The trinucleotide expansion was not found in eight families with ADCA and maculopathy or .24 kindreds with a pure type of ADCA, confirming that these syndromes are genetically distinct. It was also not detected in 12 patients with sporadic degenerative ataxias. DNA analysis for the SCAI mutation is useful diagnostically in single patients orsmall families, and can be used for presymptomatic testing where appropriate.

dominant ataxia; trinucleotide repeat

Received December 31, 1993. Revised February 23, 1994. Accepted March 18, 1994.


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