Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type | Zendy

Berciano José | Zendy; Infante Jon | Zendy; García Antonio | Zendy; Polo José Miguel | Zendy; Volpini Victor | Zendy; Combarros Onofre | Zendy

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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

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