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Brain, Vol. 116, No. 6, 1497-1508, 1993
© 1993 Guarantors of Brain

research-article

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

A. Dürr1, H. Chneiweiss2, C. Khati1, G. Stevanin1, G. Cancel1, J. Feingold3, Y. Agid1 and A. Brice1

1INSERM U 289, Hôspital de la Salpêtrière Paris, France 2INSERM U 114, Collège de France Paris, France 3INSERM U 155, Château de Longchamp Paris, France

Correspondence to: Correspondence to: Alexandra Durr, MD, INSERM U289, Hopital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris CEDEX 13, France.

Families with autosomal dominant cerebellar ataxia (ADCA), a heterogeneous group of diseases, were investigated prior to and during genetic linkage analysis. We report here on the clinical features of 122 affected individuals from 36 unrelated families with ADCA type I, the most common type. Our results indicate an anticipation expressed in a mean 9.4 year earlier age at onset and more rapid clinical progression in successive generations. There was no imprinting, since age at onset, disease duration and severity of the disease were independent of parental transmission. Progressive cerebellar ataxia was variably associated with signs such as ophthalmoplegia, dysphagia, sphincter disturbances, briskness or loss of tendon reflexes, decreased vibration sense and amyotrophy, a variability correlated with disease duration. Linkage analysis of 10 informative families with microsatellite markers, located on the short arm of the chromosome 6, allowed the identification of four families showing positive linkage to the SCA1 (spinal cerebellar ataxia 1) locus and six non-SCA1 families for whom linkage to this locus was excluded. This reflects non-allelic genetic heterogeneity. Thus, the analysis of clinical signs associated with cerebellar ataxia in SCA1 versus non-SCA1 kindreds did not distinguish between the two groups. The clinical picture of ADCA type I did not reflect the genetic heterogeneity of the disease.

Received June 1, 1993. Revised June 29, 1993. Accepted July 31, 1993.


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