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  • Title: Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type.
    Author: Berciano J, Infante J, García A, Polo JM, Volpini V, Combarros O.
    Journal: Mov Disord; 2005 Dec; 20(12):1643-5. PubMed ID: 16092110.
    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.
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