title: Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.
abstract: We have clinically and genetically evaluated 24 affected patients belonging to 22 Italian Friedreich ataxia (FA) families, 52 patients from 32 kindreds with proven autosomal dominant cerebellar ataxia (ADCA), 9 patients belonging to 5 families with autosomal recessive hereditary ataxia (ARCA) and 103 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 autosomal dominant types, spinocerebellar ataxia 2 (SCA2) genotype has been found in 31% of our ADCA families, resulting the most frequent form of ataxia. Phenotypic analysis of the various SCA subtypes evidenced a marked heterogeneity of symptoms with a substantial overlap between different syndromes.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Cellini
authors.forename: P
authors.initials: P
authors.lastname: Forleo
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: A
authors.initials: A
authors.lastname: Tedde
authors.forename: S
authors.initials: S
authors.lastname: Latorraca
authors.forename: S
authors.initials: S
authors.lastname: Piacentini
authors.forename: L
authors.initials: L
authors.lastname: Parnetti
authors.forename: V
authors.initials: V
authors.lastname: Gallai
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000328:Adult; D000368:Aged; D005621:Friedreich Ataxia / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007558:Italy; D008875:Middle Aged; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D018911:Trinucleotide Repeats