Neurogenetics. 2010 May;11(2):261-5. Epub 2010 Feb 17.

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.

Diehl B, Lee MS, Reid JR, Nielsen CD, Natowicz MR.

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National Hospital for Neurology and Neurosurgery, London, UK.

Abstract

Friedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration sense with onset before 25 years. While several atypical forms of FRDA are recognized, profound vision deficit is rare. We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation. This case emphasizes that FRDA should be considered for individuals with significant vision deficit with optic atrophy and sensory neuropathy, even in the absence of ataxia. This case also raises the additional, related concern that prior studies may underestimate the frequency and varieties of variant forms of FRDA.

PMID:: 20162437; [PubMed - indexed for MEDLINE]

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