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

Neurogenetics, 10.1007/s10048-009-0233-x

Beate Diehl1, Michael S. Lee2, Janet R. Reid3, Craig D. Nielsen4 and Marvin R. Natowicz5, 6 Contact Information
(1) National Hospital for Neurology and Neurosurgery, London, UK
(2) Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA
(3) Radiology Institute, Cleveland Clinic, Cleveland, OH, USA
(4) Medicine Institute, Cleveland Clinic, Cleveland, OH, USA
(5) Genomic Medicine Institute, NE-5 Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
(6) Institutes of Pathology and Laboratory Medicine, Neurology and Pediatrics, Cleveland Clinic, Cleveland, OH, USA

Received: 3 August 2009 Accepted: 29 December 2009 Published online: 17 February 2010

Keywords Atypical Friedreich ataxia - Variant Friedreich ataxia - Frataxin - Mitochondrial - Optic atrophy