Abstract
Autosomal ataxias (ADCA) are a highly heterogeneous group of hereditary neurological diseases characterized by progressive cerebellar ataxia variably associated with other neurological deficits. The clinical phenotype is slowly progressive ataxia with increased reflexes, mental retardation, and mild developmental delay in motor acquisition. The genes responsible for these diseases have not yet been identified. Since the responsible genes at these loci are unknown, molecular testing for these diseases can only be performed by linkage analysis in large informative families. The clinical features characteristic of each disease may help to make the diagnosis. They may not be reliable enough, however, since only a single family is reported for each locus and phenotypic variants may be found. Therefore, no cellular or animal models are available. Although no specific treatment for these diseases is established, physical and speech therapy is recommended. An anticonvulsant is effective for the petit mal seizures seen in one of the SCA13 patients.
Published Version
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