Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type.
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.
Berciano
José
J
Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain. jaberciano@humv.es
Infante
Jon
J
García
Antonio
A
Polo
José Miguel
JM
Volpini
Victor
V
Combarros
Onofre
O
D017668:Age of Onset; D000368:Aged; D002531:Cerebellum / Q000473:pathology*; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005621:Friedreich Ataxia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000209:etiology*; D009431:Neural Conduction / Q000502:physiology; D013116:Spinal Cord / Q000473:pathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C093316:GPAA1 protein, human; D008562:Membrane Glycoproteins