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Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locus

Institut National de Neurologie (Drs. Belal, Hentati, C. Ben Hamida, and M. Ben Hamida), Tunis, Tunisia; INSERM U 289 (Drs. Khati, Agid, and Brice, and G. Cancel and G. Stevanin), Hôpital de la Salpêtrière, Paris, France; and the Department of Neurology (Dr. Auburger), University Hospital, Düsseldorf, Germany.

Autosomal dominant cerebellar ataxias (ADCA) type 1 are a clinically and genetically heterogeneous group of neurodegenerative disorders. We report a large Tunisian ADCA type 1 family in which 17 patients (mean age at onset ± SD = 35.6. ± 15.3 years) were examined. There was mean anticipation of 10.3 ± 15.4 years in this family; anticipation was greater in paternal (28 ± 8.2 years) than in maternal (2.7 ± 10.9 years) transmission. Linkage analysis performed with microsatellite markers linked to the spinal cerebellar ataxia 1 (SCA1) locus on chromosome 6p and the SCA2 locus on chromosome 12q excluded linkage to SCA1, but there was close linkage with marker D12S105 (Z_max = 2.51 at 6 = 0.00). This result was confirmed by multipoint analysis, which generated a maximal lod score of 3.46 at this locus. Multipoint analysis and haplotype reconstruction reduced the interval containing the SCA2 locus to 6.4 cM, a narrowing of the 35-cM interval in a previously described Cuban SCA2 family with a clinical picture similar to that of our family, including a high frequency of postural and action tremor.

Address correspondence and reprint requests to Dr. Alexis Brice, INSERM U 289, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital 75651 Paris Cédex 13, France.

Supported by the Association Française contre les Myopathies, the Fondation Nationale de la Recherche Scientifique Tunisienne, the Muscular Dystrophy Association, the Association des Myopathes de Tunisie, the Association pour le Développement de la Recherche sur les Maladies Génétiques Neurologiques et Psychiatriques, and the Groupement de Recherches et d'Etudes sur le Génome. The Franco-Tunisian cooperation (INSERM-DRST) allowed us to realize this work. Dr. Khati received a fellowship from the Fondation pour la Recherche Médicale.

Received November 3, 1993. Accepted in final form February 9, 1994.

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