Nature Genetics
4, 295 - 299 (1993)
doi:10.1038/ng0793-295
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23−24.1S. Gispert1, 3, *, R. Twells2, *, G. Orozco4, A. Brice5, J. Weber6, L. Heredero3, K. Scheufler1, B. Riley2, R. Allotey2, C. Nothers1, R. Hillermann2, A. Lunkes1, C. Khati5, G. Stevanin5, A. Hernandez1, 7, C. Magariño1, 3, T. Klockgether8, A. Durr5, H. Chneiweiss5, J. Enczmann9, M. Farrall10, J. Beckmann11, M. Mullan12, P. Wernet9, Y. Agid5, H.-J. Freund1, R. Williamson2, G. Auburger1
& S. Chamberlain2
1Department of Neurology, University Hospital, Moorenstrasse 5, 4 Duesseldorf, Germany
2Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London W21PG, England
3National Centre of Medical Genetics, Cubanacan, Playa, Havana, Cuba
4Department of Neurology, Lenin Hospital, Holguin, Cuba
5Unite Inserm 289 et Service de Neurologie et Neuropsychologie, Höpital de la Salpetriere, Paris et Unite Inserm 114, College de France, Paris, France
6Marshfield Medical Research Foundation, Marshfield, Wisconsin, 54449, USA
7Institute of Haematology and Immunology, Havana, Cuba
8Department of Neurology, University Hospital, 74 Tuebingen, Germany
9Immunology Laboratory, Institute for Transfusion Medicine, University Hospital, Duesseldorf, Germany
10M.R.C. Molecular Medicine Group, Department of Medicine, Royal Postgraduate Medical School, Hammersmith, UK
11Centre d'Etude du Polymorphisme Humain, 75010 Paris, France
12Suncoast Gerontology Center, University of South Florida, Tampa, Florida 33612, USA Correspondence should be addressed to G.A & S.C. The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23−24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
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