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NEUROLOGY 1993;43:1131
© 1993 American Academy of Neurology

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1

Clinical and genetic analysis of 10 French families

C. Khati, MD, G. Stevanin, BS, A. Durr, MD, H. Chneiweiss, MD, PhD, S. Belal, MD, A. Seek, MD, H. Cann, MD, A. Brice, MD and Y. Agid, MD, PhD

Unité Inserm 289 and Service de Neurologie et Neuropsychologic (Drs. Khati, Durr, Belal, Seek, Brice, and Agid and G. Stevanin), Hôpital de la Salpêtriére; Unité Inserm 114 (Dr. Chneiweiss), Collége de France; and the Centre d'Etude du Poiymorphisme Humain (Dr. Cann), Paris, France.

We performed linkage analysis between the gene responsible for spinal cerebellar ataxia 1 (SCA1) and the highly polymorphic chromosome 6 locus, D6S89, in 10 French families with autosomal dominant cerebellar ataxia (ADCA) type 1. These families were clinically indistinguishable except for one family with loss of hearing and vision. Very close linkage was observed in four families, with no evidence of recombination between SCA1 and D6S89. Linkage with D6S89 was excluded in the six others, thus demonstrating genetic heterogeneity for ADCA type 1. The D6S89 marker, which is very closely linked to the disease locus, can be used to identify SCA1 families and will lead to predictive testing.

Address correspondence and reprint requests to Dr. C. Khati, Unité Inserm 289, Hôpital de la Salpêtriere, Paris, France.

Supported by the Association Francaise contre les Myopathies and the Association pour le Développement de la Recherche sur les Maladies Génétiques Neurologiques et Psychiatriques. Dr. C. Khati was the recipient of a fellowship from Fondation pour la Recherche Médicale. Dr. H. Cann is partially supported by INSERM.

Received August 7, 1992. Accepted for publication in final form October 12, 1992.

*Deceased.




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