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 9q13-9q21.1 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.
Evidence of a genetic marker associated with early onset in Friedreich's ataxia / Cocozza, Sergio; A., Antonelli; G., Campanella; F., Cavalcanti; DE MICHELE, Giuseppe; S. D., Donato; Filla, Alessandro; A., Monticelli; L., Pianese; A., Piccinelli. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - ELETTRONICO. - 240:(1993), pp. 254-256.
Evidence of a genetic marker associated with early onset in Friedreich's ataxia.
COCOZZA, SERGIO;DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO;
1993
Abstract
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 9q13-9q21.1 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
