title: Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.
abstract: Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within SCA1, 2, 3, 6, 7 (spinocerebellar ataxia) and DRPLA (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the families originated from Southern, 19% from Central and 25% from Northern Italy. SCA2 was the commonest mutation, accounting for 47% of the families, followed by SCA1 (24%), SCA6 (2%), SCA7 (2%) and DRPLA (1%). No SCA3 family was found. Twenty-four percent of the families carried a still unidentified mutation. When occurrence of mutations was evaluated according to the geographic origin, SCA1 was the commonest in Northern (72%), whereas SCA2 was prevalent (63%) in Southern Italy. The number of CAG repeats in SCA1 normal alleles was higher in Northern than in Central-Southern Italy.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy. afilla@unina.it
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: C
authors.initials: C
authors.lastname: Mariotti
authors.forename: G
authors.initials: G
authors.lastname: Caruso
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: I
authors.initials: I
authors.lastname: Castaldo
authors.forename: O
authors.initials: O
authors.lastname: Calabrese
authors.forename: E
authors.initials: E
authors.lastname: Salvatore
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: M C
authors.initials: MC
authors.lastname: Riggio
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: S
authors.initials: S
authors.lastname: Di Donato
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D005917:Globus Pallidus; D006801:Humans; D008297:Male; D008875:Middle Aged; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D012012:Red Nucleus; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*