Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.
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.
Filla
A
A
Department of Neurological Sciences, Federico II University, Naples, Italy. afilla@unina.it
Mariotti
C
C
Caruso
G
G
Coppola
G
G
Cocozza
S
S
Castaldo
I
I
Calabrese
O
O
Salvatore
E
E
De Michele
G
G
Riggio
M C
MC
Pareyson
D
D
Gellera
C
C
Di Donato
S
S
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*