Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.

Abstract:

:To explore the clinical heterogeneity associated with the Friedreich's ataxia (FRDA) expanded repeat and provide preliminary guidance for future gene testing in patients suspected of having FRDA, we tested patients with typical FRDA (group I), late-onset FRDA or FRDA with retained reflexes (group II), as well as those with early onset "non-Friedreich's" recessive or sporadic ataxia (group III). Eighty-seven percent of families in group I tested positive for the FRDA triplet repeat expansion. Thirty-six percent of families in group II demonstrated the FRDA expansion. Only one of 11 patients in group III had the FRDA expansion. Clinical criteria did not clearly distinguish between expansion-positive and expansion-negative individuals in groups I and II. Minimal criteria that were present in all the patients who tested positive were recessive or sporadic inheritance, progressive caudal-rostral gait and limb ataxia, and at least one of the following: dysarthria, Babinski sign, or cardiomyopathy. This study confirms recent findings that some patients in group II can carry the FRDA mutation. However, we did not observe the FRDA expansion in 64% of group II families or in 13% of families with typical FRDA (group I), suggesting other genetic or environmental causes for their ataxia.

journal_name

Neurology

journal_title

Neurology

authors

Geschwind DH,Perlman S,Grody WW,Telatar M,Montermini L,Pandolfo M,Gatti RA

doi

10.1212/wnl.49.4.1004

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

1004-9

issue

4

eissn

0028-3878

issn

1526-632X

journal_volume

49

pub_type

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