title: CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.
abstract: We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: E
authors.initials: E
authors.lastname: Parrotta
authors.forename: D
authors.initials: D
authors.lastname: DeFalco
authors.forename: M
authors.initials: M
authors.lastname: Cappelli
authors.forename: G S
authors.initials: GS
authors.lastname: Grieco
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: G
authors.initials: G
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D018900:Dinucleotide Repeats / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology