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Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type
Author(s) -
Berciano José,
Infante Jon,
García Antonio,
Polo José Miguel,
Volpini Victor,
Combarros Onofre
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20644
Subject(s) - ataxia , atrophy , cerebellar ataxia , age of onset , pathology , cerebellum , medicine , phenotype , trinucleotide repeat expansion , clinical phenotype , biology , genetics , disease , allele , gene , psychiatry
Very late‐onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia. © 2005 Movement Disorder Society