TY - JOUR
T1 - Evidence of a genetic marker associated with early onset in Friedreich's ataxia
AU - Cocozza, Sergio
AU - Antonelli, Antonella
AU - Campanella, Giuseppe
AU - Cavalcanti, Francesca
AU - De Michele, Giuseppe
AU - Di Donato, Stefano
AU - Filla, Alessandro
AU - Monticelli, Antonella
AU - Pianese, Luigi
AU - Piccinelli, Anna
AU - Porcellini, Antonio
AU - Redolfi, Elena
AU - Varrone, Stelio
AU - Pandolfo, Massimo
PY - 1993/4
Y1 - 1993/4
N2 - We evaluated the association between age at onset of Friedreich's ataxia and alleles of two restriction fragment length polymorphisms (RFLP) at D9S15 and D9S5 in the 9gl3-9g21.1 region. We studied 65 Italian patients from 49 families. Age at onset was not normally distributed in our patients, suggesting allelic heterogeneity. Patients homozygous for allele 1 of MspI RFLP detected by probe MCT112 at D9S15 (M1) had an earlier onset (mean 9.3, SD 3.4 years) than patients homozygous for allele 2 (M2; mean 12.1, SD 4.3). Heterozygotes had an onset age similar to that of the M2 homozygotes. These findings suggest that the M1 allele might be a marker of one allelic early-onset Friedreich's ataxia mutation.
AB - We evaluated the association between age at onset of Friedreich's ataxia and alleles of two restriction fragment length polymorphisms (RFLP) at D9S15 and D9S5 in the 9gl3-9g21.1 region. We studied 65 Italian patients from 49 families. Age at onset was not normally distributed in our patients, suggesting allelic heterogeneity. Patients homozygous for allele 1 of MspI RFLP detected by probe MCT112 at D9S15 (M1) had an earlier onset (mean 9.3, SD 3.4 years) than patients homozygous for allele 2 (M2; mean 12.1, SD 4.3). Heterozygotes had an onset age similar to that of the M2 homozygotes. These findings suggest that the M1 allele might be a marker of one allelic early-onset Friedreich's ataxia mutation.
KW - Age at onset
KW - Friedreich's ataxia
KW - Restriction fragment length polymorphisms
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U2 - 10.1007/BF00818715
DO - 10.1007/BF00818715
M3 - Article
C2 - 8496716
AN - SCOPUS:0027159640
VL - 240
SP - 254
EP - 256
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 4
ER -