✦ LIBER ✦
Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type
✍ Scribed by José Berciano; Jon Infante; Antonio García; José Miguel Polo; Victor Volpini; Onofre Combarros
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 95 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
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