Clinical and genetic analysis of hereditary and sporadic ataxia in centralItaly

We have clinically and genetically evaluated 24 affected patients belonging to 22 Italian Friedreich ataxia (FA) families, 52 patients from 32 kindred s with proven autosomal dominant cerebellar ataxia (ADCA), 9 patients belon ging to 5 families with autosomal recessive hereditary ataxia (ARCA) and 10 3 sporadic cases, 89 of which affected by idiopathic late onset cerebellar ataxia (ILOCA). Genotype-phenotype correlation analyses in FA patients have evidenced an inverse relationship between GAA repeat expansion length and age of onset, disease duration, and presence of cardiomyopathy. Among autos omal dominant types, spinocerebellar ataxia 2 (SCA2) genotype has been foun d in 31% of our ADCA families, resulting the most frequent form of ataxia. Phenotypic analysis of the various SCA subtypes evidenced a marked heteroge neity of symptoms with a substantial overlap between different syndromes. ( C) 2001 Elsevier Science Inc.