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Volumn 2, Issue 1, 2007, Pages

Hereditary sensory and autonomic neuropathies: Types II, III, and IV

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL ANALGESIA; GENETICS; HUMAN; NEUROLOGIC EXAMINATION; NEUROPATHY; PHYSICAL EXAMINATION; PROGNOSIS; REVIEW;

EID: 36749026623     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-39     Document Type: Article
Times cited : (161)

References (63)
  • 1
    • 36749089684 scopus 로고    scopus 로고
    • Autonomic and Sensory Disorders
    • 5th edition. Edited by: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Edinburgh: Churchill Livingstone;
    • Axelrod FB: Autonomic and Sensory Disorders. In Principles and Practice of Medical Genetics Volume 3. 5th edition. Edited by: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Edinburgh: Churchill Livingstone; 2007:2802-2816.
    • (2007) Principles and Practice of Medical Genetics , vol.3 , pp. 2802-2816
    • Axelrod, F.B.1
  • 2
    • 0001768884 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons
    • Edited by: Dyck PJ, Thomas PK, Lambert EH. Philadelphia: WB Saunders;
    • Dyck P, Ohta M: Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In Peripheral Neuropathy Volume 2. Edited by: Dyck PJ, Thomas PK, Lambert EH. Philadelphia: WB Saunders; 1975:791.
    • (1975) Peripheral Neuropathy , vol.2 , pp. 791
    • Dyck, P.1    Ohta, M.2
  • 3
    • 0021738204 scopus 로고
    • Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia
    • Axelrod FB, Pearson J: Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 1984, 138:947-954.
    • (1984) Am J Dis Child , vol.138 , pp. 947-954
    • Axelrod, F.B.1    Pearson, J.2
  • 5
    • 0036839943 scopus 로고    scopus 로고
    • Hereditary sensory neuropathy type I mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis
    • Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH Jr, Holleran WM, Hanada K: Hereditary sensory neuropathy type I 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    Ho, M.4    Nishijima, M.5    Brown Jr, R.H.6    Holleran, W.M.7    Hanada, K.8
  • 6
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLCI, 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 SPTLCI, 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
  • 13
    • 0035282461 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-ralated disorder
    • Toscano E, Andria G: Congenital insensitivity to pain with anhidrosis: an NGF/TrkA-ralated disorder. Am J Med Genet 2001, 99:164-165.
    • (2001) Am J Med Genet , vol.99 , pp. 164-165
    • Toscano, E.1    Andria, G.2
  • 15
    • 0026811311 scopus 로고
    • Autonomic involvement in inherited neuropathies
    • Thomas PK: Autonomic involvement in inherited neuropathies. Clin Autan Res 1992, 2:51-56.
    • (1992) Clin Autan Res , vol.2 , pp. 51-56
    • Thomas, P.K.1
  • 16
    • 0000157043 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
    • Edited by: Dyck PJ, Thomas PK, Griffin JW, Low PA, Podulso JF. Philadelphia: W.B. Saunders;
    • Dyck PJ: Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Peripheral Neuropathy Volume 2. Edited by: Dyck PJ, Thomas PK, Griffin JW, Low PA, Podulso JF. Philadelphia: W.B. Saunders; 1993:1065-1093.
    • (1993) Peripheral Neuropathy , vol.2 , pp. 1065-1093
    • Dyck, P.J.1
  • 17
    • 0036244858 scopus 로고    scopus 로고
    • Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs
    • Axelrod FB: Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. Clin Auton Res 2002, 12(Suppl 1):12-114.
    • (2002) Clin Auton Res , vol.12 , Issue.SUPPL. 1 , pp. 12-114
    • Axelrod, F.B.1
  • 19
    • 0036249966 scopus 로고    scopus 로고
    • Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations
    • HiIz MJ: Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002, 12(Suppl 1):133-143.
    • (2002) Clin Auton Res , vol.12 , Issue.SUPPL. 1 , pp. 133-143
    • MJ, H.I.1
  • 22
    • 1442328913 scopus 로고    scopus 로고
    • Familial dysautonomia
    • Axelrod FB: Familial dysautonomia. Muscle Nerve 2004, 29(3):352-363.
    • (2004) Muscle Nerve , vol.29 , Issue.3 , pp. 352-363
    • Axelrod, F.B.1
  • 23
    • 0000719898 scopus 로고
    • Respiratory control in familial dysautonomia
    • Filler J, Smith AA, Stone S, Daneis J: Respiratory control in familial dysautonomia. J Pediatr 1965, 66:509-516.
    • (1965) J Pediatr , vol.66 , pp. 509-516
    • Filler, J.1    Smith, A.A.2    Stone, S.3    Daneis, J.4
  • 24
    • 0014803042 scopus 로고
    • The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia
    • Edelman NH, Cherniack NS, Lahiri S, Richards E, Fishman AP: The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia. J Clin Invest 1970, 49(6):1153-1165.
    • (1970) J Clin Invest , vol.49 , Issue.6 , pp. 1153-1165
    • Edelman, N.H.1    Cherniack, N.S.2    Lahiri, S.3    Richards, E.4    Fishman, A.P.5
  • 27
    • 0017074366 scopus 로고
    • Deficient sympathetic nervous system response in familial dysautonomia
    • Ziegler MG, Lake RC, Kopin IJ: Deficient sympathetic nervous system response in familial dysautonomia. N Engl J Med 1976, 294:630-633.
    • (1976) N Engl J Med , vol.294 , pp. 630-633
    • Ziegler, M.G.1    Lake, R.C.2    Kopin, I.J.3
  • 29
    • 0010219486 scopus 로고
    • Responses to infused methacholine in familial dysautonomia
    • Smith AA, Hirsch JI, Daneis J: Responses to infused methacholine in familial dysautonomia. Pediatrics 1965, 36:225-230.
    • (1965) Pediatrics , vol.36 , pp. 225-230
    • Smith, A.A.1    Hirsch, J.I.2    Daneis, J.3
  • 30
    • 0036724840 scopus 로고    scopus 로고
    • Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia
    • Bickel A, Axelrod FB, Schmetz M, Marthal H, Hilz MJ: Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry 2002, 73:299-302.
    • (2002) J Neurol Neurosurg Psychiatry , vol.73 , pp. 299-302
    • Bickel, A.1    Axelrod, F.B.2    Schmetz, M.3    Marthal, H.4    Hilz, M.J.5
  • 31
    • 0034457251 scopus 로고    scopus 로고
    • Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia
    • HiIz MJ, Axelrod FB: Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Auton Res 2000, 10:177-183.
    • (2000) Clin Auton Res , vol.10 , pp. 177-183
    • HiIz, M.J.1    Axelrod, F.B.2
  • 32
    • 0033730318 scopus 로고    scopus 로고
    • Spinal deformity in familial dysautonomia: Prevalence and results of brace management
    • Hayek S, Laplaza J, Axelrod FB, Burke SW: Spinal deformity in familial dysautonomia: Prevalence and results of brace management. J Bone Joint Surg Am 2000, 82:1558-1562.
    • (2000) J Bone Joint Surg Am , vol.82 , pp. 1558-1562
    • Hayek, S.1    Laplaza, J.2    Axelrod, F.B.3    Burke, S.W.4
  • 34
    • 0018878652 scopus 로고
    • Personality development and familial dysautonomia
    • Clayson D, Welton W, Axelrod FB: Personality development and familial dysautonomia. Pediatrics 1980, 65:269-274.
    • (1980) Pediatrics , vol.65 , pp. 269-274
    • Clayson, D.1    Welton, W.2    Axelrod, F.B.3
  • 35
    • 33646710794 scopus 로고    scopus 로고
    • Familial dysautonomia
    • 5th edition. Edited by: Fraunfelder FT, Hampton Roy F. Philadelphia: WB Saunders;
    • Axelrod FB, Solomon J, D'Amico R: Familial dysautonomia. In Current Ocular Therapy 5th edition. Edited by: Fraunfelder FT, Hampton Roy F. Philadelphia: WB Saunders; 2000:285-288.
    • (2000) Current Ocular Therapy , pp. 285-288
    • Axelrod, F.B.1    Solomon, J.2    D'Amico, R.3
  • 37
    • 16844364529 scopus 로고    scopus 로고
    • Pacemakers in patients with familial dysautonomia. A review of experience with 20 patients
    • Gold-von Simson G, Rutkowski M, Berlin D, Axelrod FB: Pacemakers in patients with familial dysautonomia. A review of experience with 20 patients. Clin Auton Res 2005, 15:15-20.
    • (2005) Clin Auton Res , vol.15 , pp. 15-20
    • Gold-von Simson, G.1    Rutkowski, M.2    Berlin, D.3    Axelrod, F.B.4
  • 39
    • 0009059529 scopus 로고    scopus 로고
    • Hypoxie chemoreceptor Stimulation induces paradoxic cardiovascular responses in familial dysautonomia [abstract]
    • Stemper B, Hilz MJ, Bernardi L, Welsch G, Passino C, Axelrod FB: Hypoxie chemoreceptor Stimulation induces paradoxic cardiovascular responses in familial dysautonomia [abstract]. Clin Auton Res 2001, 11:187.
    • (2001) Clin Auton Res , vol.11 , pp. 187
    • Stemper, B.1    Hilz, M.J.2    Bernardi, L.3    Welsch, G.4    Passino, C.5    Axelrod, F.B.6
  • 41
    • 33750067033 scopus 로고    scopus 로고
    • Prevalence and severity of renal disease in familial dysautonomia
    • Elkayam L, Matalon A, Tseng CH, Axelrod F: Prevalence and severity of renal disease in familial dysautonomia. Am J Kidney Dis 2006, 48(5):780-786.
    • (2006) Am J Kidney Dis , vol.48 , Issue.5 , pp. 780-786
    • Elkayam, L.1    Matalon, A.2    Tseng, C.H.3    Axelrod, F.4
  • 42
    • 0036799517 scopus 로고    scopus 로고
    • Maayan Ch: Survival in familial dysautonomia: Impact of early intervention
    • Axelrod FB, GoldbergJD, Xiang YY, Maayan Ch: Survival in familial dysautonomia: Impact of early intervention. J Pediatr 2002, 141:518-523.
    • (2002) J Pediatr , vol.141 , pp. 518-523
    • Axelrod, F.B.1    Goldberg, J.D.2    Xiang, Y.Y.3
  • 43
    • 0016399689 scopus 로고
    • Current concepts of dysautonomia: Neuropathological defects
    • Pearson J, Axelrod F, Daneis J: Current concepts of dysautonomia: neuropathological defects. Ann NY Acad Sci 1974, 228:288-300.
    • (1974) Ann NY Acad Sci , vol.228 , pp. 288-300
    • Pearson, J.1    Axelrod, F.2    Daneis, J.3
  • 44
    • 0015013412 scopus 로고
    • Peripheral nerve abnormalities in the RileyDay syndrome
    • Aguayo A, Nair CPV, Bray GM: Peripheral nerve abnormalities in the RileyDay syndrome. Arch Neurol 1971, 24:106-116.
    • (1971) Arch Neurol , vol.24 , pp. 106-116
    • Aguayo, A.1    Nair, C.P.V.2    Bray, G.M.3
  • 46
    • 0018166231 scopus 로고
    • Quantitative studies of sympathetic ganglia and spinal cord intermediolateral gray columns in familial dysautonomia
    • Pearson J, Pytel B: Quantitative studies of sympathetic ganglia and spinal cord intermediolateral gray columns in familial dysautonomia. J Neurol Sci 1978, 39:47-59.
    • (1978) J Neurol Sci , vol.39 , pp. 47-59
    • Pearson, J.1    Pytel, B.2
  • 47
    • 84986815612 scopus 로고
    • Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability
    • GroverJohnson N, Pearson J: Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability. Neuropathol Appl Neurobiol 1976, 2:217-224.
    • (1976) Neuropathol Appl Neurobiol , vol.2 , pp. 217-224
    • GroverJohnson, N.1    Pearson, J.2
  • 48
    • 4344654753 scopus 로고    scopus 로고
    • Assessing function and pathology in familial dysautonomia: Assessment of temperature perception, sweating and cutaneous innervation
    • Hilz MJ, Axelrod FB, Bickel A, Stemper B, Brys M, Wendelschafer-Crabb G, Kennedy W: Assessing function and pathology in familial dysautonomia: Assessment of temperature perception, sweating and cutaneous innervation. Brain 2004, 127:2090-2098.
    • (2004) Brain , vol.127 , pp. 2090-2098
    • Hilz, M.J.1    Axelrod, F.B.2    Bickel, A.3    Stemper, B.4    Brys, M.5    Wendelschafer-Crabb, G.6    Kennedy, W.7
  • 50
    • 36749095330 scopus 로고    scopus 로고
    • Axelrod FB, Maayan Ch: Familial dysautonomia. In Gellis and Kagen's Current Pediatric Therapy 17th edition. Edited by: Burg FD, Ingelfinger JR, Polin RA, Gershon AA. Philadelphia: WB Saunders; 2002:437-441.
    • Axelrod FB, Maayan Ch: Familial dysautonomia. In Gellis and Kagen's Current Pediatric Therapy 17th edition. Edited by: Burg FD, Ingelfinger JR, Polin RA, Gershon AA. Philadelphia: WB Saunders; 2002:437-441.
  • 51
    • 18144381278 scopus 로고    scopus 로고
    • Familial dysautonomia: A review of the current pharmacological treatments
    • Axelrod FB: Familial dysautonomia: A review of the current pharmacological treatments. Expert Opin Pharmacother 2005, 6:561-567.
    • (2005) Expert Opin Pharmacother , vol.6 , pp. 561-567
    • Axelrod, F.B.1
  • 52
    • 0034641274 scopus 로고    scopus 로고
    • lctal SPECT during autonomic crisis in familial dysautonomia
    • Axelrod FB, Zupanc M, Hilz MJ, Kramer EL: lctal SPECT during autonomic crisis in familial dysautonomia. Neurology 2000, 55:122-125.
    • (2000) Neurology , vol.55 , pp. 122-125
    • Axelrod, F.B.1    Zupanc, M.2    Hilz, M.J.3    Kramer, E.L.4
  • 53
    • 0028828774 scopus 로고
    • Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia
    • Axelrod FB, Krey L, Glickstein JS, Allison JW, Friedman D: Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. J Auton Nerv Syst 1995, 55(1-2):29-35.
    • (1995) J Auton Nerv Syst , vol.55 , Issue.1-2 , pp. 29-35
    • Axelrod, F.B.1    Krey, L.2    Glickstein, J.S.3    Allison, J.W.4    Friedman, D.5
  • 56
    • 0028060265 scopus 로고
    • Congenital insensitivity to pain with anhidrosis(hereditary sensory and autonomc neuropathy type IV)
    • Rosenberg S, Nagahashi Marie SK, Kliemann S: Congenital insensitivity to pain with anhidrosis(hereditary sensory and autonomc neuropathy type IV). Pediatr Neurol 1994, 11:50-56.
    • (1994) Pediatr Neurol , vol.11 , pp. 50-56
    • Rosenberg, S.1    Nagahashi Marie, S.K.2    Kliemann, S.3
  • 57
    • 0013871566 scopus 로고
    • Congenital familial sensory neuropathy with anhidrosis
    • Pinsky L, DiGeorge AM: Congenital familial sensory neuropathy with anhidrosis. J Pediatr 1966, 68(1):1-13.
    • (1966) J Pediatr , vol.68 , Issue.1 , pp. 1-13
    • Pinsky, L.1    DiGeorge, A.M.2
  • 59
    • 0031804481 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis: Lack of eccrine sweat gland innervation confirmed
    • Ismail EA, Al-Shammari N, Anim JT, Moosa A: Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. J Child Neurol 1998, 13(5):243-246.
    • (1998) J Child Neurol , vol.13 , Issue.5 , pp. 243-246
    • Ismail, E.A.1    Al-Shammari, N.2    Anim, J.T.3    Moosa, A.4
  • 61
    • 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
  • 62
    • 0019511402 scopus 로고
    • Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electronmicroscopic study
    • Langer J, Goebel HH, Veit S: Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electronmicroscopic study. Acta Neuropathol 1981, 54:199-202.
    • (1981) Acta Neuropathol , vol.54 , pp. 199-202
    • Langer, J.1    Goebel, H.H.2    Veit, S.3
  • 63
    • 0033549077 scopus 로고    scopus 로고
    • Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV
    • Hilz MJ, Stemper B, Axelrod FB: Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology 1999, 52:1652-1657.
    • (1999) Neurology , vol.52 , pp. 1652-1657
    • Hilz, M.J.1    Stemper, B.2    Axelrod, F.B.3


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