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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
Journal of Neurology, Volume 259, No. 8, Year 2012
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Description
The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have been identified as causing HSAN. To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. We identified 25 index patients with mutations in six genes associated with HSAN (SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 and NGFB); 20 of which appear to be pathogenic giving an overall mutation frequency of 14.3%. Mutations in the known genes for HSAN are rare suggesting that further HSAN genes are yet to be identified. The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN. © Springer-Verlag 2012.
Authors & Co-Authors
Davidson, G. L.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
United Kingdom, London
Ucl Queen Square Institute of Neurology
Murphy, Sinead M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Polke, James M.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
United Kingdom, London
Ucl Queen Square Institute of Neurology
Laurà, Matilde
United Kingdom, London
Ucl Queen Square Institute of Neurology
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
King Saud University
Muntoni, Francesco M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Blake, Julian C.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
United Kingdom, Norwich
Norfolk and Norwich University Hospitals Nhs Foundation Trust
Brandner, Sebastian G.P.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Davies, Nicholas W.S.
United Kingdom, Birmingham
Queen Elizabeth Hospital Birmingham
Horvàth, Rita
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Price, Sue M.
United Kingdom, Oxford
Oxford University Hospitals Nhs Foundation Trust
Donaghy, M.
United Kingdom, Oxford
University of Oxford
Roberts, Mark E.
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
Foulds, N.
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Ramdharry, Gita M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Soler, Doriette M.
Malta, Valletta
Mater Dei Hospital
Lunn, Michael P.T.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Manji, H.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Davis, Mary
United Kingdom, London
National Hospital for Neurology and Neurosurgery
United Kingdom, London
Ucl Queen Square Institute of Neurology
Houlden, Henry H.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
United Kingdom, London
Ucl Queen Square Institute of Neurology
Reilly, Mary M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Statistics
Citations: 81
Authors: 21
Affiliations: 12
Identifiers
Doi:
10.1007/s00415-011-6397-y
ISSN:
03405354
e-ISSN:
14321459
Research Areas
Cancer
Study Design
Cross Sectional Study
Cohort Study