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Lookup NU author(s): Professor Rita HorvathORCiD
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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.
Author(s): Davidson GL, Murphy SM, Polke JM, Laura M, Salih MAM, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn MP, Manji H, Davis MB, Houlden H, Reilly MM
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2012
Volume: 259
Issue: 8
Pages: 1673-1685
Print publication date: 02/02/2012
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Medizin
URL: http://dx.doi.org/10.1007/s00415-011-6397-y
DOI: 10.1007/s00415-011-6397-y
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