Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

Cinzia Gellera; Davide Pareyson; Barbara Castellotti; Franca Mazzucchelli; Boris Zappacosta; Massimo Pandolfo; Stefane Di Donato

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

Cinzia Gellera, Davide Pareyson, Barbara Castellotti, Franca Mazzucchelli, Boris Zappacosta, Massimo Pandolfo, Stefane Di Donato

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.

Original language	English
Pages (from-to)	1153-1155
Number of pages	3
Journal	Neurology
Volume	49
Issue number	4
Publication status	Published - Oct 1997

ASJC Scopus subject areas

Neuroscience(all)

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Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. / Gellera, Cinzia ; Pareyson, Davide ; Castellotti, Barbara; Mazzucchelli, Franca; Zappacosta, Boris; Pandolfo, Massimo; Donato, Stefane Di.

In: Neurology, Vol. 49, No. 4, 10.1997, p. 1153-1155.

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

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abstract = "Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.",

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AU - Gellera, Cinzia

AU - Pareyson, Davide

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AU - Mazzucchelli, Franca

AU - Zappacosta, Boris

AU - Pandolfo, Massimo

AU - Donato, Stefane Di

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AB - Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.

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