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Volumn 17, Issue 5, 2004, Pages 569-577

Hereditary sensory neuropathies

Author keywords

Genetics; Genotype; Hereditary sensory and autonomic neuropathy; Hereditary sensory neuropathy; Phenotype

Indexed keywords

BONE MALFORMATION; DYSAUTONOMIA; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NEUROPATHY; NONHUMAN; OSTEOMYELITIS; REVIEW; ULCER;

EID: 6944248980     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200410000-00007     Document Type: Review
Times cited : (61)

References (73)
  • 1
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • Dyck PJ, Griffin JW, Low P, Poduslo JF, editors. Philadelphia: W.B. Saunders
    • Dyck P, Chance P, Lebo R, Carney J. Hereditary motor and sensory neuropathies. In: Dyck PJ, Griffin JW, Low P, Poduslo JF, editors. Peripheral neuropathy, 3rd ed. Philadelphia: W.B. Saunders; 1993. pp. 1094-1136.
    • (1993) Peripheral Neuropathy, 3rd Ed. , pp. 1094-1136
    • Dyck, P.1    Chance, P.2    Lebo, R.3    Carney, J.4
  • 2
    • 0037337539 scopus 로고    scopus 로고
    • Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: A review
    • Auer-Grumbach M, De Jonghe P, Verhoeven K, et al. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol 2003; 60:329-334.
    • (2003) Arch Neurol , vol.60 , pp. 329-334
    • Auer-Grumbach, M.1    De Jonghe, P.2    Verhoeven, K.3
  • 3
    • 0037371509 scopus 로고    scopus 로고
    • Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    • Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003; 72:722-727.
    • (2003) Am J Hum Genet , vol.72 , pp. 722-727
    • Verhoeven, K.1    De Jonghe, P.2    Coen, K.3
  • 4
    • 0033982968 scopus 로고    scopus 로고
    • Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci
    • Auer-Grumbach M, Wagner K, Timmerman V, et al. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 2000; 54:45-52.
    • (2000) Neurology , vol.54 , pp. 45-52
    • Auer-Grumbach, M.1    Wagner, K.2    Timmerman, V.3
  • 5
    • 0036173752 scopus 로고    scopus 로고
    • A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT 2B) or hereditary sensory neuropathy type I (HSN I) loci
    • Bellone E, Rodolico C, Toscano A, et al. A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT 2B) or hereditary sensory neuropathy type I (HSN I) loci. Neuromuscul Disord 2002; 12:286-291.
    • (2002) Neuromuscul Disord , vol.12 , pp. 286-291
    • Bellone, E.1    Rodolico, C.2    Toscano, A.3
  • 6
    • 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
  • 7
    • 0035093827 scopus 로고    scopus 로고
    • SPTLC1 is mutated in hereditary sensory neuropathy, type 1
    • Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001; 27:261-262.
    • (2001) Nat Genet , vol.27 , pp. 261-262
    • Bejaoui, K.1    Wu, C.2    Scheffler, M.D.3
  • 8
    • 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, et al. 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
  • 9
    • 0041385594 scopus 로고    scopus 로고
    • A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24
    • Kok C, Kennerson ML, Spring PJ, et al. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am J Hum Genet 2003; 73:632-637.
    • (2003) Am J Hum Genet , vol.73 , pp. 632-637
    • Kok, C.1    Kennerson, M.L.2    Spring, P.J.3
  • 10
    • 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
  • 11
    • 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
  • 12
    • 0035089807 scopus 로고    scopus 로고
    • Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific 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
  • 13
    • 15844369925 scopus 로고    scopus 로고
    • Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
    • Indo Y, Tsuruta M, Hayashida Y. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996; 13:485-488.
    • (1996) Nat Genet , vol.13 , pp. 485-488
    • Indo, Y.1    Tsuruta, M.2    Hayashida, Y.3
  • 14
    • 0035072984 scopus 로고    scopus 로고
    • A novel TRKA (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V
    • Houlden H, King RH, Hashemi-Nejad A, et al. A novel TRKA (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol 2001; 49:521-525.
    • (2001) Ann Neurol , vol.49 , pp. 521-525
    • Houlden, H.1    King, R.H.2    Hashemi-Nejad, A.3
  • 15
    • 0036327040 scopus 로고    scopus 로고
    • No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
    • Toscano E, Simonati A, Indo Y, Andria G. No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. Ann Neurol 2002; 52:224-227.
    • (2002) Ann Neurol , vol.52 , pp. 224-227
    • Toscano, E.1    Simonati, A.2    Indo, Y.3    Andria, G.4
  • 16
  • 17
    • 50749109971 scopus 로고
    • Hereditary perforating ulcer of the foot
    • Hicks E. Hereditary perforating ulcer of the foot. Lancet 1922; 1:319-321.
    • (1922) Lancet , vol.1 , pp. 319-321
    • Hicks, E.1
  • 18
    • 0000985763 scopus 로고
    • L'acropathie ulcero-mutilante familiale
    • Paris
    • Thèvenard A. L'acropathie ulcero-mutilante familiale. Rev Neurol (Paris) 1942; 74:193-203.
    • (1942) Rev Neurol , vol.74 , pp. 193-203
    • Thèvenard, A.1
  • 19
    • 84915665662 scopus 로고
    • L'acropathie ulcero-mutilante familiale
    • Thèvenard A. L'acropathie ulcero-mutilante familiale. Acta Neurol Belg 1953; 53:1-23.
    • (1953) Acta Neurol Belg , vol.53 , pp. 1-23
    • Thèvenard, A.1
  • 20
    • 0042075663 scopus 로고
    • Etude histopathologique d'une observation d'arthropathie mutilante symetrique familiale
    • Van Bogaert L. Etude histopathologique d'une observation d'arthropathie mutilante symetrique familiale. Acta Neurol Belg 1953; 53:37-53.
    • (1953) Acta Neurol Belg , vol.53 , pp. 37-53
    • Van Bogaert, L.1
  • 21
    • 0000751211 scopus 로고
    • Hereditary sensory radicular neuropathy
    • Denny-Brown D. Hereditary sensory radicular neuropathy. J Neurol Neurosurg Psychiatry 1951; 14:237-252.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 237-252
    • Denny-Brown, D.1
  • 22
    • 0004351369 scopus 로고
    • Sensory radicular neuropathy associated with muscle wasting in two cases
    • Campbell A, Hoffman H. Sensory radicular neuropathy associated with muscle wasting in two cases. Brain 1964; 87:67-74.
    • (1964) Brain , vol.87 , pp. 67-74
    • Campbell, A.1    Hoffman, H.2
  • 23
    • 0013826227 scopus 로고
    • Observations upon a predominantly sensory hereditary neuropathy
    • Wallace D. Observations upon a predominantly sensory hereditary neuropathy. Proc Aust Assoc Neurol 1965; 3:101-109.
    • (1965) Proc Aust Assoc Neurol , vol.3 , pp. 101-109
    • Wallace, D.1
  • 24
    • 3643100232 scopus 로고
    • Hereditary sensory radicular neuropathy
    • Sydney: Australian Medical Publishing Co Ltd.
    • Wallace D. Hereditary sensory radicular neuropathy. Archdall Medical Monograph. Sydney: Australian Medical Publishing Co Ltd.; 1970. p. 8.
    • (1970) Archdall Medical Monograph , pp. 8
    • Wallace, D.1
  • 25
    • 0016203376 scopus 로고
    • Hereditary sensory neuropathy. Association with increased synthesis of immunoglobulin A
    • Whitaker J, Falchuck ZM, Engel WK, et al. Hereditary sensory neuropathy. Association with increased synthesis of immunoglobulin A. Arch Neurol 1974; 30:359-371.
    • (1974) Arch Neurol , vol.30 , pp. 359-371
    • Whitaker, J.1    Falchuck, Z.M.2    Engel, W.K.3
  • 26
    • 0030140392 scopus 로고    scopus 로고
    • The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3
    • Nicholson GA, Dawkins JL, Blair IP, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 1996; 13:101-104.
    • (1996) Nat Genet , vol.13 , pp. 101-104
    • Nicholson, G.A.1    Dawkins, J.L.2    Blair, I.P.3
  • 27
    • 0032980321 scopus 로고    scopus 로고
    • Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22
    • Bejaoui K, McKenna-Yasek D, Hosler BA, et al. Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. Neurology 1999; 52:510-515.
    • (1999) Neurology , vol.52 , pp. 510-515
    • Bejaoui, K.1    McKenna-Yasek, D.2    Hosler, B.A.3
  • 28
    • 0030704747 scopus 로고    scopus 로고
    • Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1→q22.3: Exclusion of GAS1 and XPA
    • Blair IP, Dawkins JL, Nicholson GA. Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1→q22.3: exclusion of GAS1 and XPA. Cytogenet Cell Genet 1997; 78:140-144.
    • (1997) Cytogenet Cell Genet , vol.78 , pp. 140-144
    • Blair, I.P.1    Dawkins, J.L.2    Nicholson, G.A.3
  • 29
    • 0032528024 scopus 로고    scopus 로고
    • A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma
    • Blair IP, Hulme D, Dawkins JL, Nicholson GA. A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. Genomics 1998; 51:277-281.
    • (1998) Genomics , vol.51 , pp. 277-281
    • Blair, I.P.1    Hulme, D.2    Dawkins, J.L.3    Nicholson, G.A.4
  • 30
    • 0034894053 scopus 로고    scopus 로고
    • Hereditary sensory neuropathy type I: Haplotype analysis shows founders in southern England and Europe
    • Nicholson GA, Dawkins JL, Blair IP, et al. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet 2001; 69:655-659.
    • (2001) Am J Hum Genet , vol.69 , pp. 655-659
    • Nicholson, G.A.1    Dawkins, J.L.2    Blair, I.P.3
  • 31
    • 12144290325 scopus 로고    scopus 로고
    • SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I
    • Verhoeven K, Coen K, De Vriendt E, et al. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 2004; 62:1001-1002.
    • (2004) Neurology , vol.62 , pp. 1001-1002
    • Verhoeven, K.1    Coen, K.2    De Vriendt, E.3
  • 32
    • 0037155816 scopus 로고    scopus 로고
    • Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase
    • Gable K, Han G, Monaghan E, et al. Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. J Biol Chem 2002; 277:10194-10200.
    • (2002) J Biol Chem , vol.277 , pp. 10194-10200
    • Gable, K.1    Han, G.2    Monaghan, E.3
  • 33
    • 0036839943 scopus 로고    scopus 로고
    • Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis
    • Bejaoui K, Uchida Y, Yasuda S, et al. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 2002; 110:1301-1308.
    • (2002) J Clin Invest , vol.110 , pp. 1301-1308
    • Bejaoui, K.1    Uchida, Y.2    Yasuda, S.3
  • 34
    • 0004360121 scopus 로고
    • Familial lumbo-sacral syringomyelia and the significance of developmental errors of the spinal cord and column
    • Jackson M. Familial lumbo-sacral syringomyelia and the significance of developmental errors of the spinal cord and column. Med J Aust 1949; 1:434-439.
    • (1949) Med J Aust , vol.1 , pp. 434-439
    • Jackson, M.1
  • 35
    • 3643054286 scopus 로고
    • Perforating ulcers of feet, with osseous atrophy in a family with other evidences of dysgenesis (harelip, cleft palate): An instance of probable myelodysplasia
    • Tocantins L, Reimann H. Perforating ulcers of feet, with osseous atrophy in a family with other evidences of dysgenesis (harelip, cleft palate): an instance of probable myelodysplasia. JAMA 1939; 112:2251-2255.
    • (1939) JAMA , vol.112 , pp. 2251-2255
    • Tocantins, L.1    Reimann, H.2
  • 36
    • 0011083928 scopus 로고
    • Hereditary sensory radicular neuropathy and other defects in a large family
    • Reimann H, McKechnie W, Stanisavljevic S. Hereditary sensory radicular neuropathy and other defects in a large family. Am J Med 1958; 25:573-579.
    • (1958) Am J Med , vol.25 , pp. 573-579
    • Reimann, H.1    McKechnie, W.2    Stanisavljevic, S.3
  • 37
    • 0033808833 scopus 로고    scopus 로고
    • Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
    • Dubourg O, Barhoumi C, Azzedine H, et al. Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. Muscle Nerve 2000; 23:1508-1514.
    • (2000) Muscle Nerve , vol.23 , pp. 1508-1514
    • Dubourg, O.1    Barhoumi, C.2    Azzedine, H.3
  • 38
    • 0000157043 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
    • Dyck PJ, Thomas PK, Griffin JW, et al., editors. Philadelphia: W.B. Saunders
    • Dyck P. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, et al., editors. Peripheral neuropathy. Philadelphia: W.B. Saunders; 1993. pp. 1065-1093.
    • (1993) Peripheral Neuropathy , pp. 1065-1093
    • Dyck, P.1
  • 39
    • 0029150128 scopus 로고
    • Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
    • Kwon JM, Elliott JL, Yee WC, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995; 57:853-858.
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Elliott, J.L.2    Yee, W.C.3
  • 40
    • 0030928374 scopus 로고    scopus 로고
    • Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
    • De Jonghe P, Timmerman V, FitzPatrick D, et al. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997; 62:570-573.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 570-573
    • De Jonghe, P.1    Timmerman, V.2    Fitzpatrick, D.3
  • 41
    • 0034727596 scopus 로고    scopus 로고
    • Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus
    • Auer-Grumbach M, De Jonghe P, Wagner K, et al. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology 2000; 55:1552-1557.
    • (2000) Neurology , vol.55 , pp. 1552-1557
    • Auer-Grumbach, M.1    De Jonghe, P.2    Wagner, K.3
  • 42
    • 0035212793 scopus 로고    scopus 로고
    • Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neurons
    • Tang BL. Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neurons. J Neurochem 2001; 79:923-930.
    • (2001) J Neurochem , vol.79 , pp. 923-930
    • Tang, B.L.1
  • 43
    • 6944234258 scopus 로고
    • Un cas de syringomyelie chez l'enfant
    • Bousquet D. Un cas de syringomyelie chez l'enfant. Ann Meo' Chir Infant 1906; 10:673-679.
    • (1906) Ann Meo' Chir Infant , vol.10 , pp. 673-679
    • Bousquet, D.1
  • 45
    • 3042813034 scopus 로고
    • De la paresie analgesique a panaris des extremites superieures ou pareso-analgesie des extremities superieures
    • Morvan AM. De la paresie analgesique a panaris des extremites superieures ou pareso-analgesie des extremities superieures. Gaz Herb Med 1883; 20:580-583, 590-594, 624-626, 721.
    • (1883) Gaz Herb Med , vol.20 , pp. 580-583
    • Morvan, A.M.1
  • 46
    • 6944220652 scopus 로고
    • De l'anesthesie sous ses divers modes dans la paresoanalgesie: Cas frustes de pareso-analgesie
    • Morvan AM. De l'anesthesie sous ses divers modes dans la paresoanalgesie: cas frustes de pareso-analgesie. Gaz Hebd Med 1889; 26:560.
    • (1889) Gaz Hebd Med , vol.26 , pp. 560
    • Morvan, A.M.1
  • 47
    • 0013049486 scopus 로고
    • A familial peripheral neuropathy of unknown etiology resembling Morvan's disease
    • Ogryzlo M. A familial peripheral neuropathy of unknown etiology resembling Morvan's disease. Can Med Assoc J 1946; 54:547-553.
    • (1946) Can Med Assoc J , vol.54 , pp. 547-553
    • Ogryzlo, M.1
  • 48
    • 0013951540 scopus 로고
    • A syndrome of the neural crest
    • Brown JW, Podosin R. A syndrome of the neural crest. Arch Neurol 1966; 15:294-301.
    • (1966) Arch Neurol , vol.15 , pp. 294-301
    • Brown, J.W.1    Podosin, R.2
  • 49
    • 0023276007 scopus 로고
    • Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies
    • Donaghy M, Hakin RN, Bamford JM, et al. Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Brain 1987; 110:563-583.
    • (1987) Brain , vol.110 , pp. 563-583
    • Donaghy, M.1    Hakin, R.N.2    Bamford, J.M.3
  • 50
    • 0015874907 scopus 로고
    • Congenital sensory neuropathy
    • Murray TJ. Congenital sensory neuropathy. Brain 1973; 96:387-394.
    • (1973) Brain , vol.96 , pp. 387-394
    • Murray, T.J.1
  • 52
    • 0026438996 scopus 로고
    • Nonprogressive type II hereditary sensory autonomic neuropathy: A homogeneous clinicopathologic entity
    • Ferriere G, Guzzetta F, Kulakowski S, Evrard P. Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity. J Child Neurol 1992; 7:364-370.
    • (1992) J Child Neurol , vol.7 , pp. 364-370
    • Ferriere, G.1    Guzzetta, F.2    Kulakowski, S.3    Evrard, P.4
  • 53
    • 0001294620 scopus 로고
    • Central autonomic dysfunction with defective lacrimation: Report of five cases
    • Riley CM, Day RL, Greeley DM, Langford WS. Central autonomic dysfunction with defective lacrimation: report of five cases. Pediatrics 1949; 3:468-478.
    • (1949) Pediatrics , vol.3 , pp. 468-478
    • Riley, C.M.1    Day, R.L.2    Greeley, D.M.3    Langford, W.S.4
  • 54
    • 0015951385 scopus 로고
    • Breech presentation among infants with familial dysautonomia
    • Axelrod FB, Leistner HL, Porges RF. Breech presentation among infants with familial dysautonomia. J Pediatr 1974; 84:107-109.
    • (1974) J Pediatr , vol.84 , pp. 107-109
    • Axelrod, F.B.1    Leistner, H.L.2    Porges, R.F.3
  • 55
    • 0029907490 scopus 로고    scopus 로고
    • Pattern of plasma levels of catecholamines in familial dysautonomia
    • Axelrod FB, Goldstein DS, Holmes C, et al. Pattern of plasma levels of catecholamines in familial dysautonomia. Clin Auton Res 1996; 6:205-209.
    • (1996) Clin Auton Res , vol.6 , pp. 205-209
    • Axelrod, F.B.1    Goldstein, D.S.2    Holmes, C.3
  • 56
    • 0033365390 scopus 로고    scopus 로고
    • Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31
    • Blumenfeld A, Slaugenhaupt SA, Liebert CB, et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet 1999; 64:1110-1118.
    • (1999) Am J Hum Genet , vol.64 , pp. 1110-1118
    • Blumenfeld, A.1    Slaugenhaupt, S.A.2    Liebert, C.B.3
  • 57
    • 0041329911 scopus 로고    scopus 로고
    • Identification of the first non-Jewish mutation in familial dysautonomia
    • Leyne M, Mull J, Gill S, et al. Identification of the first non-Jewish mutation in familial dysautonomia. Am J Med Genet 2003; 118A:305-308.
    • (2003) Am J Med Genet , vol.118 A , pp. 305-308
    • Leyne, M.1    Mull, J.2    Gill, S.3
  • 58
    • 0002126731 scopus 로고
    • Congenital insensitivity to pain: A unique syndrome in two male siblings
    • Swanson A. Congenital insensitivity to pain: a unique syndrome in two male siblings. Arch Neurol 1963; 8:299-306.
    • (1963) Arch Neurol , vol.8 , pp. 299-306
    • Swanson, A.1
  • 59
    • 33645234943 scopus 로고
    • Autonomic changes in congenital insensitivity to pain: Absence of small primary sensory neurons in ganglia, roots and Lissauer's tract
    • Swanson A, Buchan GG, Alvord EC. Autonomic changes in congenital insensitivity to pain: absence of small primary sensory neurons in ganglia, roots and Lissauer's tract. Arch Neurol 1965; 12:12-18.
    • (1965) Arch Neurol , vol.12 , pp. 12-18
    • Swanson, A.1    Buchan, G.G.2    Alvord, E.C.3
  • 60
    • 0019175747 scopus 로고
    • Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV
    • Goebel HH, Veit S, Dyck PJ. Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 1980; 39:670-675.
    • (1980) J Neuropathol Exp Neurol , vol.39 , pp. 670-675
    • Goebel, H.H.1    Veit, S.2    Dyck, P.J.3
  • 61
    • 0020621190 scopus 로고
    • Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy
    • Dyck PJ, Mellinger JF, Reagan TJ, et al. Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy. Brain 1983; 106:373-390.
    • (1983) Brain , vol.106 , pp. 373-390
    • Dyck, P.J.1    Mellinger, J.F.2    Reagan, T.J.3
  • 62
    • 0028297308 scopus 로고
    • Mice lacking nerve growth factor display perinatal loss of sensory and sympathetic neurons yet develop basal forebrain cholinergic neurons
    • Crowley C, Spencer S, Nishimura M, et al. Mice lacking nerve growth factor display perinatal loss of sensory and sympathetic neurons yet develop basal forebrain cholinergic neurons. Cell 1994; 76:1001-1011.
    • (1994) Cell , vol.76 , pp. 1001-1011
    • Crowley, C.1    Spencer, S.2    Nishimura, M.3
  • 63
    • 0033358543 scopus 로고    scopus 로고
    • A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis
    • Greco A, Villa R, Tubino B, et al. A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. Am J Hum Genet 1999; 64:1207-1210.
    • (1999) Am J Hum Genet , vol.64 , pp. 1207-1210
    • Greco, A.1    Villa, R.2    Tubino, B.3
  • 64
    • 0034686512 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: Genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies
    • Shatzky S, Moses S, Levy J, et al. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am J Med Genet 2000; 92:353-360.
    • (2000) Am J Med Genet , vol.92 , pp. 353-360
    • Shatzky, S.1    Moses, S.2    Levy, J.3
  • 65
    • 0035205827 scopus 로고    scopus 로고
    • 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
    • Indo Y. 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 2001; 18:462-471.
    • (2001) Hum Mutat , vol.18 , pp. 462-471
    • Indo, Y.1
  • 66
    • 0035253349 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis (CIPA): Effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
    • Mardy S, Miura Y, Endo F, et al. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 2001; 10:179-188.
    • (2001) Hum Mol Genet , vol.10 , pp. 179-188
    • Mardy, S.1    Miura, Y.2    Endo, F.3
  • 67
    • 0036250154 scopus 로고    scopus 로고
    • Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
    • Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res 2002; 12(Suppl. 1):120-32.
    • (2002) Clin Auton Res , vol.12 , Issue.1 SUPPL. , pp. 120-132
    • Indo, Y.1
  • 68
    • 0034284256 scopus 로고    scopus 로고
    • Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis
    • Nolano M, Crisci C, Santoro L, et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000; 111:1596-1601.
    • (2000) Clin Neurophysiol , vol.111 , pp. 1596-1601
    • Nolano, M.1    Crisci, C.2    Santoro, L.3
  • 69
    • 0017929414 scopus 로고
    • Congenital sensory neuropathy with selective loss of small myelinated fibers
    • Low P, Burke WJ, McLeod JG. Congenital sensory neuropathy with selective loss of small myelinated fibers. Ann Neurol 1978; 3:179-182.
    • (1978) Ann Neurol , vol.3 , pp. 179-182
    • Low, P.1    Burke, W.J.2    McLeod, J.G.3
  • 70
    • 0020675007 scopus 로고
    • Neurogenic arthropathy and recurring fractures with subclinical inherited neuropathy
    • Dyck PJ, Stevens JC, O'Brien PC, et al. Neurogenic arthropathy and recurring fractures with subclinical inherited neuropathy. Neurology 1983; 33:357-367.
    • (1983) Neurology , vol.33 , pp. 357-367
    • Dyck, P.J.1    Stevens, J.C.2    O'Brien, P.C.3
  • 71
    • 0025317398 scopus 로고
    • Dominantly transmitted congenital indifference to pain
    • Landrieu P, Said G, Allaire C. Dominantly transmitted congenital indifference to pain. Ann Neurol 1990; 27:574-578.
    • (1990) Ann Neurol , vol.27 , pp. 574-578
    • Landrieu, P.1    Said, G.2    Allaire, C.3
  • 72
    • 0030272504 scopus 로고    scopus 로고
    • Serial magnetic resonance images in a patient with congenital sensory neuropathy with anhidrosis and complications resembling heat stroke
    • Iwanaga R, Matsuishi T, Ohnishi A, et al. Serial magnetic resonance images in a patient with congenital sensory neuropathy with anhidrosis and complications resembling heat stroke. J Neurol Sci 1996; 142:79-84.
    • (1996) J Neurol Sci , vol.142 , pp. 79-84
    • Iwanaga, R.1    Matsuishi, T.2    Ohnishi, A.3
  • 73
    • 10744228985 scopus 로고    scopus 로고
    • Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene
    • Lee MJ, Stephenson DA, Groves MJ, et al. Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin- containing t-complex peptide-1 (Cct4) gene. Hum Mol Genet 2003; 12:1917-1925.
    • (2003) Hum Mol Genet , vol.12 , pp. 1917-1925
    • Lee, M.J.1    Stephenson, D.A.2    Groves, M.J.3


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