Spinocerebellar ataxia 1 (SCA1) Is a late onset autosomal dominant disorder characterized by progressive degeneration of cerebellum, brainstem, spinal cord and peripheral nerves and is associated to an unstable expansion of a CAG repeat in a gene located on 6p22-p23. Some clinical features (age at onset, course, severity) seem to be related to the CAG repeat size. Our study was aimed to verifying the clinical-genetic correlations during a long-term follow-up. We could follow-up for a long period (2 to 9 years) 40 subjects out of 61 patients from 12 SCA1 kindreds. In all subjects the clinical diagnosis had been confirmed by the molecular analysis and the repeat size of the expanded alleles ranged from 47 to 66. Twenty males and 20 females with a disease duration of 4 to 29 years were included and seen at least once a year. At each clinical evaluation, the disability score was assessed by means of the Disability Status Scale. The progression index was calculated and related to the onset age, and the CAG repeat length. The progression rate with respect to the disease stage (initial, intermediate or late) was also evaluated to better define the actual pattern of the natural history of the disease.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology