Brain, Vol. 117, No. 3, 445-460, 1994
© 1994 Guarantors of Brain
research-article |
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes
1National Hospital for Neurology and Neurosurgery London, UK 2Department of Clinical Neurology, Institute of Neurology London, UK
Correspondence to:
Correspondence to: Professor A. E. Harding, Institute of Neurology, Queen Square, London WCIN 3BG, UK
We describe 54 members of eitht families with a distinct autosomal dominant cerebellar ataxia associated with visual failure secondary to a pigmentary macular dystrophy. The presenting symptom was ataxia in two-thirds of patients and visual failure or both in the remainder. The macular abnormalities were often subtle in early cases, even in some with moderately reduced visual acuity. Other neurological features included pyramidal tract signs and a supranuclear ophthalmoplegia with progressive saccadic palsy. Ages of onset and clinical course were very variable, even within families, and included a rapidly progressive, infantile-onset phenotype. Pedigree analysis showed the existence of non-manifesting obligate carriers and anticipation in the offspring of affected fathers; transmission of the disease to severe, infantile-onset cases was always from an affected father. Similar genetic phenomena have been reported in myotonic dystrophy and Huntington's disease and it is likely that the gene mutation in this condition will similarly consist of an unstable trinucleotide repeat expansion.
dominant ataxia; maculopathy; anticipaton
Received July 19, 1993. Revised January 6, 1994. Accepted February 2, 1994.
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