Evidence of a genetic marker associated with early onset in Friedreich's ataxia

Sergio Cocozza; Antonella Antonelli; Giuseppe Campanella; Francesca Cavalcanti; Giuseppe De Michele; Stefano Di Donato; Alessandro Filla; Antonella Monticelli; Luigi Pianese; Anna Piccinelli; Antonio Porcellini; Elena Redolfi; Stelio Varrone; Massimo Pandolfo

doi:10.1007/BF00818715

Evidence of a genetic marker associated with early onset in Friedreich's ataxia

Sergio Cocozza, Antonella Antonelli, Giuseppe Campanella, Francesca Cavalcanti, Giuseppe De Michele, Stefano Di Donato, Alessandro Filla, Antonella Monticelli, Luigi Pianese, Anna Piccinelli, Antonio Porcellini, Elena Redolfi, Stelio Varrone, Massimo Pandolfo

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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 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.

Original language	English
Pages (from-to)	254-256
Number of pages	3
Journal	Journal of Neurology
Volume	240
Issue number	4
DOIs	https://doi.org/10.1007/BF00818715
Publication status	Published - Apr 1993

Keywords

Age at onset
Friedreich's ataxia
Restriction fragment length polymorphisms

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1007/BF00818715

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Evidence of a genetic marker associated with early onset in Friedreich's ataxia. / Cocozza, Sergio; Antonelli, Antonella; Campanella, Giuseppe; Cavalcanti, Francesca; De Michele, Giuseppe; Di Donato, Stefano; Filla, Alessandro; Monticelli, Antonella; Pianese, Luigi; Piccinelli, Anna; Porcellini, Antonio; Redolfi, Elena; Varrone, Stelio; Pandolfo, Massimo.

In: Journal of Neurology, Vol. 240, No. 4, 04.1993, p. 254-256.

Research output: Contribution to journal › Article › peer-review

Cocozza, Sergio ; Antonelli, Antonella ; Campanella, Giuseppe ; Cavalcanti, Francesca ; De Michele, Giuseppe ; Di Donato, Stefano ; Filla, Alessandro ; Monticelli, Antonella ; Pianese, Luigi ; Piccinelli, Anna ; Porcellini, Antonio ; Redolfi, Elena ; Varrone, Stelio ; Pandolfo, Massimo. / Evidence of a genetic marker associated with early onset in Friedreich's ataxia. In: Journal of Neurology. 1993 ; Vol. 240, No. 4. pp. 254-256.

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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 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.",

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author = "Sergio Cocozza and Antonella Antonelli and Giuseppe Campanella and Francesca Cavalcanti and {De Michele}, Giuseppe and {Di Donato}, Stefano and Alessandro Filla and Antonella Monticelli and Luigi Pianese and Anna Piccinelli and Antonio Porcellini and Elena Redolfi and Stelio Varrone and Massimo Pandolfo",

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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

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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.

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