Variable sensory nerve conduction parameters in late onset Friedreich ataxia
Corresponding Author
James J.P. Alix PhD, MRCP
Sheffield Institute for Translational Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, United Kingdom
Department of Clinical Neurophysiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Correspondence to: J. J. P. Alix; e-mail: [email protected]Search for more papers by this authorTaimour Alam MRCP
Department of Clinical Neurophysiology, Leeds General Infirmary, Leeds, United Kingdom
Search for more papers by this authorKate Garrard BSc
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorJoanne Martindale MRCPath
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorPriya Shanmugarajah MD, MRCP
Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorD. Ganesh Rao DM, FRCP
Department of Clinical Neurophysiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorMarios Hadjivassiliou MD, FRCP
Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorCorresponding Author
James J.P. Alix PhD, MRCP
Sheffield Institute for Translational Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, United Kingdom
Department of Clinical Neurophysiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Correspondence to: J. J. P. Alix; e-mail: [email protected]Search for more papers by this authorTaimour Alam MRCP
Department of Clinical Neurophysiology, Leeds General Infirmary, Leeds, United Kingdom
Search for more papers by this authorKate Garrard BSc
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorJoanne Martindale MRCPath
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorPriya Shanmugarajah MD, MRCP
Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorD. Ganesh Rao DM, FRCP
Department of Clinical Neurophysiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorMarios Hadjivassiliou MD, FRCP
Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom
Search for more papers by this authorDrs. Alix and Alam contributed equally to this work.
REFERENCES
- 1 Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996; 335: 1169–1175.
- 2 Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 2005; 62: 1865–1869.
- 3 Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, et al. Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. Neurology 1997; 49: 1153–1155.
- 4 Zouari M, Feki M, Ben Hamida C, Larnaout A, Turki I, Belal S, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord 1998; 8: 416–425.
- 5 Klockgether T, Chamberlain S, Wüllner U, Fetter M, Dittmann H, Petersen D, et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993; 50: 803–806.
- 6 Santoro L, De Michele G, Perretti A, Crisci C, Cocozza S, Cavalcanti F, et al. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1999; 66: 93–96.
- 7 Berciano J, Mateo I, De Pablos C, Polo JM, Combarros O. Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. J Neurol Sci 2002; 194: 75–82.
- 8 Lhatoo SD, Rao DG, Kane NM, Ormerod IE. Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy. Neurology 2001; 56: 1776–1777.