Cerebellar/spinocerebellar syndromes.
Spinocerebellar syndromes are a heterogeneous group of neurological disorders clinically characterized by dysequilibrium, progressive incoordination of gait and limbs, and speech and eye movement disturbances. Clinical classification and differential diagnosis are intricate due to the great variability of the phenotypic, pathogenic, neuropathological and genetic aspects of these diseases. Spinocerebellar syndromes may present as sporadic, nongenetic, disorders or as familial forms. Clinical and genetic classifications of autosomal dominant and recessive spinocerebellar ataxias are briefly reviewed. Distinguishing clinical features, diagnostic procedures, and frequency of specific genotypes in Italian patients are presented.
Mariotti
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C
Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy.
Di Donato
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S
D002524:Cerebellar Ataxia / Q000145:classification / Q000175:diagnosis / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D007558:Italy; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome