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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Age of Onset
-
Aged
-
Cerebellum / pathology*
-
Evoked Potentials, Somatosensory / physiology
-
Friedreich Ataxia / genetics*
-
Friedreich Ataxia / pathology
-
Friedreich Ataxia / physiopathology
-
Humans
-
Magnetic Resonance Imaging / methods
-
Male
-
Membrane Glycoproteins / genetics*
-
Multiple System Atrophy / diagnosis
-
Multiple System Atrophy / etiology*
-
Neural Conduction / physiology
-
Spinal Cord / pathology
-
Trinucleotide Repeat Expansion / genetics*
Substances
-
GPAA1 protein, human
-
Membrane Glycoproteins