Abstract
Autosomal dominantly inherited spinocerebellar ataxias (SCA) form a heterogeneous group of neurodegenerative disorders characterized by progressive deterioration of the cerebellar fimction and its afferent and efferent tracts. Besides the features resulting from this affection, there are several other symptoms associated with these diseases (retinal degeneration, atrophy of the optical nerve, spasticity, dementia, extrapyramidal symptoms).
Since there are considerable inter- and intrafamilial differences in the age of onset, severity of the disease and clinical neurological features, the classification is difficult and so far insufficient. During the last years, a new diagnostic view on the autosomal dominant SCA's has become possible by developing molecular genetic methods.
The aim of this paper is to review the present knowledge and to provide basic orientation in clinical differential diagnostics of spinocerebellar ataxias.