메뉴 건너뛰기




Volumn 80, Issue 18, 2013, Pages 1641-1649

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; EXON; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IID; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VIVO STUDY; MYELIN SHEATH; NERVE CONDUCTION; PHENOTYPE; PRIORITY JOURNAL; SCN94 GENE; SENSORY NERVE; SURAL NERVE;

EID: 84879099503     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182904fdd     Document Type: Article
Times cited : (56)

References (38)
  • 1
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001;27:309-312.
    • (2001) Nat Genet , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 2
    • 77957736233 scopus 로고    scopus 로고
    • Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
    • Rotthier A, Auer-Grumbach M, Janssens K, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet 2010;87:513-522.
    • (2010) Am J Hum Genet , vol.87 , pp. 513-522
    • Rotthier, A.1    Auer-Grumbach, M.2    Janssens, K.3
  • 3
    • 78650899552 scopus 로고    scopus 로고
    • Targeted highthroughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
    • Guelly C, Zhu PP, Leonardis L, et al. Targeted highthroughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 2011;88:99-105.
    • (2011) Am J Hum Genet , vol.88 , pp. 99-105
    • Guelly, C.1    Zhu, P.P.2    Leonardis, L.3
  • 4
    • 0029050566 scopus 로고
    • Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia
    • Wright A, Dyck PJ. Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. Neurology 1995;45:560-562.
    • (1995) Neurology , vol.45 , pp. 560-562
    • Wright, A.1    Dyck, P.J.2
  • 5
    • 0032970457 scopus 로고    scopus 로고
    • Hereditary sensory neuropathy with deafness and dementia: A clinical and neuroimaging study
    • Hojo K, Imamura T, Takanashi M, et al. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. Eur J Neurol 1999;6:357-361.
    • (1999) Eur J Neurol , vol.6 , pp. 357-361
    • Hojo, K.1    Imamura, T.2    Takanashi, M.3
  • 6
    • 79957623760 scopus 로고    scopus 로고
    • Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
    • Klein CJ, Botuyan MV, Wu Y, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 2011;43:595-600.
    • (2011) Nat Genet , vol.43 , pp. 595-600
    • Klein, C.J.1    Botuyan, M.V.2    Wu, Y.3
  • 7
    • 2342557998 scopus 로고    scopus 로고
    • Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates
    • Lafreniere RG, MacDonald ML, Dube MP, et al. 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 2004;74:1064-1073.
    • (2004) Am J Hum Genet , vol.74 , pp. 1064-1073
    • Lafreniere, R.G.1    MacDonald, M.L.2    Dube, M.P.3
  • 8
    • 33645869292 scopus 로고    scopus 로고
    • Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
    • Coen K, Pareyson D, Auer-Grumbach M, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006;66:748-751.
    • (2006) Neurology , vol.66 , pp. 748-751
    • Coen, K.1    Pareyson, D.2    Auer-Grumbach, M.3
  • 9
    • 70350646901 scopus 로고    scopus 로고
    • Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
    • Kurth I, Pamminger T, Hennings JC, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet 2009;41:1179-1181.
    • (2009) Nat Genet , vol.41 , pp. 1179-1181
    • Kurth, I.1    Pamminger, T.2    Hennings, J.C.3
  • 10
    • 80051663564 scopus 로고    scopus 로고
    • KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2
    • Rivière JB, Ramalingam S, Lavastre V, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 2011;89:219-230.
    • (2011) Am J Hum Genet , vol.89 , pp. 219-230
    • Rivière, J.B.1    Ramalingam, S.2    Lavastre, V.3
  • 11
    • 0035089807 scopus 로고    scopus 로고
    • Tissuespecific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissuespecific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001;68:598-605.
    • (2001) Am J Hum Genet , vol.68 , pp. 598-605
    • Slaugenhaupt, S.A.1    Blumenfeld, A.2    Gill, S.P.3
  • 12
    • 0035097484 scopus 로고    scopus 로고
    • Familial dysautonomia is caused by mutations of the IKAP gene
    • Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001;68:753-758.
    • (2001) Am J Hum Genet , vol.68 , pp. 753-758
    • Anderson, S.L.1    Coli, R.2    Daly, I.W.3
  • 13
    • 1842564203 scopus 로고    scopus 로고
    • Inherited autonomic neuropathies
    • Axelrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol 2003;23:381-390.
    • (2003) Semin Neurol , vol.23 , pp. 381-390
    • Axelrod, F.B.1    Hilz, M.J.2
  • 14
    • 0033364823 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
    • Mardy S, Miura Y, Endo F, et al. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet 1999;64:1570-1579.
    • (1999) Am J Hum Genet , vol.64 , pp. 1570-1579
    • Mardy, S.1    Miura, Y.2    Endo, F.3
  • 15
    • 1942517847 scopus 로고    scopus 로고
    • A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception
    • Einarsdottir E, Carlsson A, Minde J, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet 2004;13:799-805.
    • (2004) Hum Mol Genet , vol.13 , pp. 799-805
    • Einarsdottir, E.1    Carlsson, A.2    Minde, J.3
  • 16
    • 79551624146 scopus 로고    scopus 로고
    • A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
    • Carvalho OP, Thornton GK, Hertecant J, et al. A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet 2011;48:131-135.
    • (2011) J Med Genet , vol.48 , pp. 131-135
    • Carvalho, O.P.1    Thornton, G.K.2    Hertecant, J.3
  • 17
    • 84860129343 scopus 로고    scopus 로고
    • Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
    • Edvardson S, Cinnamon Y, Jalas C, et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012;71:569-572.
    • (2012) Ann Neurol , vol.71 , pp. 569-572
    • Edvardson, S.1    Cinnamon, Y.2    Jalas, C.3
  • 18
    • 12144288410 scopus 로고    scopus 로고
    • Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
    • Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet 2004;41:171-174.
    • (2004) J Med Genet , vol.41 , pp. 171-174
    • Yang, Y.1    Wang, Y.2    Li, S.3
  • 19
    • 33847168937 scopus 로고    scopus 로고
    • SCN9A mutations in paroxysmal extreme pain disorder: Allelic variants underlie distinct channel defects and phenotypes
    • Fertleman CR, Baker MD, Parker KA, et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron 2006;52:767-774.
    • (2006) Neuron , vol.52 , pp. 767-774
    • Fertleman, C.R.1    Baker, M.D.2    Parker, K.A.3
  • 20
    • 84856143604 scopus 로고    scopus 로고
    • Gain of function Nav1.7 mutations in idiopathic small fiber neuropathy
    • Faber CG, Hoeijmakers JG, Ahn HS, et al. Gain of function Nav1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol 2012;71:26-39.
    • (2012) Ann Neurol , vol.71 , pp. 26-39
    • Faber, C.G.1    Hoeijmakers, J.G.2    Ahn, H.S.3
  • 21
    • 84866179889 scopus 로고    scopus 로고
    • Human Mendelian pain disorders: A key to discovery and validation of novel analgesics
    • Goldberg YP, Pimstone SN, Namdari R, et al. Human Mendelian pain disorders: a key to discovery and validation of novel analgesics. Clin Genet 2012;82:367-373.
    • (2012) Clin Genet , vol.82 , pp. 367-373
    • Goldberg, Y.P.1    Pimstone, S.N.2    Namdari, R.3
  • 22
    • 33845901486 scopus 로고    scopus 로고
    • An SCN9A channelopathy causes congenital inability to experience pain
    • Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006;444:894-898.
    • (2006) Nature , vol.444 , pp. 894-898
    • Cox, J.J.1    Reimann, F.2    Nicholas, A.K.3
  • 23
    • 34247874778 scopus 로고    scopus 로고
    • Loss-offunction mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
    • Goldberg YP, MacFarlane J, MacDonald ML, et al. Loss-offunction mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet 2007;71:311-319.
    • (2007) Clin Genet , vol.71 , pp. 311-319
    • Goldberg, Y.P.1    MacFarlane, J.2    MacDonald, M.L.3
  • 24
    • 34548419652 scopus 로고    scopus 로고
    • A stop codon mutation in SCN9A causes lack of pain sensation
    • Ahmad S, Dahllund L, Eriksson AB, et al. A stop codon mutation in SCN9A causes lack of pain sensation. Hum Mol Genet 2007;16:2114-2121.
    • (2007) Hum Mol Genet , vol.16 , pp. 2114-2121
    • Ahmad, S.1    Dahllund, L.2    Eriksson, A.B.3
  • 25
    • 77956279238 scopus 로고    scopus 로고
    • Congenital insensitivity to pain: Novel SCN9A missense and in-frame deletion mutations
    • Cox JJ, Sheynin J, Shorer Z, et al. Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat 2010;31:e1670-e1686.
    • (2010) Hum Mutat , vol.31
    • Cox, J.J.1    Sheynin, J.2    Shorer, Z.3
  • 26
    • 79952453307 scopus 로고    scopus 로고
    • Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain
    • Staud R, Price DD, Janicke D, et al. Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. Eur J Pain 2011;15:223-230.
    • (2011) Eur J Pain , vol.15 , pp. 223-230
    • Staud, R.1    Price, D.D.2    Janicke, D.3
  • 27
    • 63449141978 scopus 로고    scopus 로고
    • Two novel SCN9A mutations causing insensitivity to pain
    • Nilsen KB, Nicholas AK, Woods CG, et al. Two novel SCN9A mutations causing insensitivity to pain. Pain 2009;143:155-158.
    • (2009) Pain , vol.143 , pp. 155-158
    • Nilsen, K.B.1    Nicholas, A.K.2    Woods, C.G.3
  • 28
    • 0029759351 scopus 로고    scopus 로고
    • Developmental and pathological changes at the node and paranode in human sural nerves
    • Schröder JM. Developmental and pathological changes at the node and paranode in human sural nerves. Microsc Res Tech 1996;34:422-435.
    • (1996) Microsc Res Tech , vol.34 , pp. 422-435
    • Schröder, J.M.1
  • 29
    • 0000039947 scopus 로고
    • Pathologic alterations of nerves
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors, 3rd ed. Philadelphia: W. B. Saunders
    • Dyck PJ, Giannini C, Lais A. Pathologic alterations of nerves. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral Neuropathy, vol. 1, 3rd ed. Philadelphia: W. B. Saunders; 1993:514-595.
    • (1993) Peripheral Neuropathy , vol.1 , pp. 514-595
    • Dyck, P.J.1    Giannini, C.2    Lais, A.3
  • 30
    • 77949512406 scopus 로고    scopus 로고
    • Tablet-next generation sequence assembly visualization
    • Milne I, Bayer M, Cardle L, et al. Tablet-next generation sequence assembly visualization. Bioinformatics 2010;26:401-402.
    • (2010) Bioinformatics , vol.26 , pp. 401-402
    • Milne, I.1    Bayer, M.2    Cardle, L.3
  • 31
    • 80052584700 scopus 로고    scopus 로고
    • A new mitochondriarelated disease showing myopathy with episodic hypercreatine kinase-emia
    • Okamoto Y, Higuchi I, Sakiyama Y, et al. A new mitochondriarelated disease showing myopathy with episodic hypercreatine kinase-emia. Ann Neurol 2011;70:486-492.
    • (2011) Ann Neurol , vol.70 , pp. 486-492
    • Okamoto, Y.1    Higuchi, I.2    Sakiyama, Y.3
  • 32
    • 26444466085 scopus 로고    scopus 로고
    • Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7
    • Michiels JJ, Te Morsche RH, Jansen JB, Drenth JP. Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. Arch Neurol 2005;62:1587-1590.
    • (2005) Arch Neurol , vol.62 , pp. 1587-1590
    • Michiels, J.J.1    Te Morsche, R.H.2    Jansen, J.B.3    Drenth, J.P.4
  • 33
    • 0028985863 scopus 로고
    • Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells
    • Klugbauer N, Lacinova L, Flockerzi V, Hofmann F. Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. EMBO J 1995;14:1084-1090.
    • (1995) EMBO J , vol.14 , pp. 1084-1090
    • Klugbauer, N.1    Lacinova, L.2    Flockerzi, V.3    Hofmann, F.4
  • 34
    • 12644256626 scopus 로고    scopus 로고
    • A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia
    • Sangameswaran L, Fish LM, Koch BD, et al. A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia. J Biol Chem 1997;272:14805-14809.
    • (1997) J Biol Chem , vol.272 , pp. 14805-14809
    • Sangameswaran, L.1    Fish, L.M.2    Koch, B.D.3
  • 36
    • 84860270785 scopus 로고    scopus 로고
    • Distinct Nav1. 7-dependent pain sensations require different sets of sensory and sympathetic neurons
    • Minett MS, Nassar MA, Clark AK, et al. Distinct Nav1. 7-dependent pain sensations require different sets of sensory and sympathetic neurons. Nat Commun 2012;3:791.
    • (2012) Nat Commun , vol.3 , pp. 791
    • Minett, M.S.1    Nassar, M.A.2    Clark, A.K.3
  • 37
    • 79954495540 scopus 로고    scopus 로고
    • Loss-of-function mutations in sodium channel Nav1.7 cause anosmia
    • Weiss J, Pyrski M, Jacobi E, et al. Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. Nature 2011;472:186-190.
    • (2011) Nature , vol.472 , pp. 186-190
    • Weiss, J.1    Pyrski, M.2    Jacobi, E.3
  • 38
    • 84857229966 scopus 로고    scopus 로고
    • Small nerve fibres, small hands and small feet: A new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation
    • Hoeijmakers JG, Han C, Merkies IS, et al. Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation. Brain 2012;135:345-358.
    • (2012) Brain , vol.135 , pp. 345-358
    • Hoeijmakers, J.G.1    Han, C.2    Merkies, I.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.