Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

Journal of Neurology

Volumn 259, Issue 8, 2012, Pages 1673-1685

  Davidson, G L ^a,b   Murphy, S M ^b   Polke, J M ^a,b   Laura, M ^b   Salih, M A M ^c   Muntoni, F ^d   Blake, J ^a,e   Brandner, S ^b   Davies, N ^f   Horvath, R ^g   Price, S ^h   Donaghy, M ⁱ   Roberts, M ^j   Foulds, N ^k   Ramdharry, G ^b   Soler, D ^l   Lunn, M P ^b   Manji, H ^b   Davis, M B ^a,b   Houlden, H ^a,b   Reilly, M M ^b   more..

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^f QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^k UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^l MATER DEI HOSPITAL   (Malta)

more..

Author keywords

Genetics; Hereditary sensory and autonomic neuropathies

Indexed keywords

FAM134B PROTEIN; NERVE GROWTH FACTOR BETA SUBUNIT; PROTEIN; PROTEIN KINASE WNK1; PROTEIN TYROSINE KINASE A; RAB7 PROTEIN; SPTLC1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPATHY; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; UNITED KINGDOM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GREAT BRITAIN; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION RATE; PEDIGREE; SERINE C-PALMITOYLTRANSFERASE; YOUNG ADULT;

EID: 84867336943     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6397-y     Document Type: Article

References (24)

1. Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JC, Reilly MM, Al-Gazali L, Woods CG (2011) A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet 48:131-135
2. Dyck PJ (1993) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy. W. B Saunders, Philadelphia, pp 1065-1093
3. Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee H-J, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH Jr (2009) Overexpression of the wild-type SPT1 subunit lowers deoxysphingolipid levels and rescues the phenotype of HSAN 1. J Neurosci 29:14646-14651
4. Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M (2004) A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet 13:799-805
5. Fitzgibbon GJ, Kingston H, Needham M, Gaunt L (2009) Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain. Dev Med Child Neurol 51:833-837
6. Guelly C, Zhu P-P, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, de Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M (2011) Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 88:99-105
7. Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A (2009) A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics 10:135-143
8. Houlden H, Blake J, Reilly MM (2004) Hereditary sensory neuropathies. Curr Opin Neurol 17:569-577
9. Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM (2006) Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain 129:411-425
10. Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L (2004) A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 56:586-590
11. Indo Y (2001) Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat 18:462-471
12. Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, Dyck PJB, Parisi JE, Mer G, Smith DI, Dyck PJ (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 43:95-600
13. Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA (2009) Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet 41:1179-1181
14. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME (2004) Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 74:1064-1073
15. Minde J, Anderson T, Fulford M, Aguirre M, Nennesmo I, Remahl IN, Svensson O, Holmberg M, Toolanen G, Solders G (2009) A novel NGFB point mutation: a phenotype study of heterozygous patients. J Neurol Neurosurg Psychiatry 80:188-195
16. Minde J, Toolanen G, Andersson T, Nennesmo I, Remahl IN, Svensson O, Solders G (2004) Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. Muscle Nerve 30:752-760
17. Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y (2000) Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Hum Genet 106:116-124
18. Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry 83:119-120
19. Penno A, Reilly MM, Houlden H, Laura M, Rentsch K, Niederkofler V, Stoeckli E, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T (2010) Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem 285:11178-11187
20. Rafel E, Alberca R, Bautista J, Navarrete M, Lazo J (1980) Congenital insensitivity to pain with anhidrosis. Muscle Nerve 3:216-220
21. Reilly MM, Shy ME (2009) Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80:1304-1314
22. Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA (2011) KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 89:219-230
23. Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Sclotter-Weigel B, Loscher WN, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V (2010) Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet 87:513-522
24. Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Levy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V (2009) Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 132:2699-2711