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Volumn 27, Issue 1, 1996, Pages 26-31

Evaluation of congenital dysautonomia other than Riley-Day syndrome

Author keywords

Congenital dysautonomia; Hereditary sensory and autonomic neuropathies; Riley Day

Indexed keywords

ADOLESCENT; ADRENERGIC ACTIVITY; ADULT; ARTICLE; AUTONOMIC NEUROPATHY; CASE REPORT; CHILD; CHOLINERGIC ACTIVITY; DYSAUTONOMIA; FEMALE; GENETIC COUNSELING; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY NEUROPATHY;

EID: 0029921406     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973743     Document Type: Article
Times cited : (5)

References (42)
  • 1
    • 0015013412 scopus 로고
    • Peripheral nerve abnormalities in the Riley-Day syndrome
    • Aguayo, A. J., C. P. V. Nair, C. M. Bray: Peripheral nerve abnormalities in the Riley-Day syndrome. Arch. Neurol. 24 (1971) 106-116
    • (1971) Arch. Neurol. , vol.24 , pp. 106-116
    • Aguayo, A.J.1    Nair, C.P.V.2    Bray, C.M.3
  • 2
    • 0017845477 scopus 로고
    • Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
    • Allgrove, J., G. S. Clayden, D. B. Grant, J. C. Macaulay: Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet I (1978) 1284-1286
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, D.B.3    Macaulay, J.C.4
  • 4
    • 0020471888 scopus 로고
    • Familial dysautonomia. A prospective study of survival
    • Axelrod, F. B., J. J. Abularrage: Familial dysautonomia. a prospective study of survival. J. Pediatr. 101 (1982) 234-236
    • (1982) J. Pediatr. , vol.101 , pp. 234-236
    • Axelrod, F.B.1    Abularrage, J.J.2
  • 6
    • 0025753322 scopus 로고
    • The acetylcholine induced flare response in evaluation of small fiber dysfunction
    • Benarroch, E. E., P. A. Low: The acetylcholine induced flare response in evaluation of small fiber dysfunction Ann. Neurol. 29 (1991) 590-595
    • (1991) Ann. Neurol. , vol.29 , pp. 590-595
    • Benarroch, E.E.1    Low, P.A.2
  • 7
    • 0027175921 scopus 로고
    • Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
    • Blumenfeld, A., S. A. Slaugenhaupt, F. B. Axelrod, D. E Lucente, C. Maayan, C. B. Liebert et al Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat. Genet. 4 (1993) 160-164
    • (1993) Nat. Genet. , vol.4 , pp. 160-164
    • Blumenfeld, A.1    Slaugenhaupt, S.A.2    Axelrod, F.B.3    Lucente, D.E.4    Maayan, C.5    Liebert, C.B.6
  • 8
    • 0014842214 scopus 로고
    • Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature
    • Brunt, P. W., V. A. McKusick: Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature Medicine 49 (1970) 343-374
    • (1970) Medicine , vol.49 , pp. 343-374
    • Brunt, P.W.1    McKusick, V.A.2
  • 9
    • 0023543737 scopus 로고
    • Selective ACTH insensitivity associated with autonomic nervous system disorders and sensory polyneuropathy
    • Dumic, M, A. Radica, A. Jusic, N. Stefanovic, Z. Murko: Selective ACTH insensitivity associated with autonomic nervous system disorders and sensory polyneuropathy. Eur. J. Pediatr. 146 (1987) 592-594
    • (1987) Eur. J. Pediatr. , vol.146 , pp. 592-594
    • Dumic, M.1    Radica, A.2    Jusic, A.3    Stefanovic, N.4    Murko, Z.5
  • 10
    • 0020621190 scopus 로고
    • Not "indifference to pain" but varieties of hereditary sensory and autonomic neuropathy
    • Dyck, P. J., J. F. Mellinger, T. J. Reagan, S. J. Horowitz, J. W. McDonald, W. J. Litchy et al: Not "indifference to pain" but varieties of hereditary sensory and autonomic neuropathy Bram 106 (1983) 373-390
    • (1983) Bram , vol.106 , pp. 373-390
    • Dyck, P.J.1    Mellinger, J.F.2    Reagan, T.J.3    Horowitz, S.J.4    McDonald, J.W.5    Litchy, W.J.6
  • 11
    • 0001195801 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomie neurons
    • Dyck P. J., P. K. Thomas, J. W. Griffin, P. A Low, J. F. Poduslo (Eds ): Philadelphia, WB Saunders Co.
    • Dyck, P J.: Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomie neurons. In: Dyck P. J., P. K. Thomas, J. W. Griffin, P. A Low, J. F. Poduslo (Eds ): Peripheral Neuropathy. 3rd ed. Philadelphia, WB Saunders Co. (1984) 1557-1599
    • (1984) Peripheral Neuropathy. 3rd Ed. , pp. 1557-1599
    • Dyck, P.J.1
  • 12
    • 0014374590 scopus 로고
    • Pupdlotoma, hyporeflexia, and segmental hypohidrosis: Autonomic dysfunction in a child
    • Esterly, N B , S. J. Cantolino, B. P. Alter, S. W. Brusilow: Pupdlotoma, hyporeflexia, and segmental hypohidrosis: Autonomic dysfunction in a child. J. Pediatr. 73 (1968) 852-859
    • (1968) J. Pediatr. , vol.73 , pp. 852-859
    • Esterly, N.B.1    Cantolino, S.J.2    Alter, B.P.3    Brusilow, S.W.4
  • 13
    • 0020085177 scopus 로고
    • Progressive isolated segmental anhidrosis
    • Faden, A. I., P. Chan, E. Mendoza: Progressive isolated segmental anhidrosis. Arch. Neurol. 39 (1982) 172-175
    • (1982) Arch. Neurol. , vol.39 , pp. 172-175
    • Faden, A.I.1    Chan, P.2    Mendoza, E.3
  • 16
    • 0020522580 scopus 로고
    • Selective ACTH insensitivity, achalasia, and alacrima: A multisystem disorder presenting in childhood
    • Geffner, M. E., B. M. Lippe, S. A. Kaplan, W. E. Berquist, J. B. Bateman, V. I. Paterno et al: Selective ACTH insensitivity, achalasia, and alacrima: a multisystem disorder presenting in childhood. Pediatr. Res. 17 (1983) 532-536
    • (1983) Pediatr. Res. , vol.17 , pp. 532-536
    • Geffner, M.E.1    Lippe, B.M.2    Kaplan, S.A.3    Berquist, W.E.4    Bateman, J.B.5    Paterno, V.I.6
  • 17
    • 0027287304 scopus 로고
    • Abnormalities of the corrected QT interval in familial dysautonomia. An indicator of autonomie dysfunction
    • Glickstein, J. S., D. Schwartzman, D. Friedman, M. Rutkawski, F. B. Axelrod: Abnormalities of the corrected QT interval in familial dysautonomia. An indicator of autonomie dysfunction. J Pediatr. 122 (1993) 925-928
    • (1993) J Pediatr. , vol.122 , pp. 925-928
    • Glickstein, J.S.1    Schwartzman, D.2    Friedman, D.3    Rutkawski, M.4    Axelrod, F.B.5
  • 18
    • 0039404808 scopus 로고
    • Topographic studies of disturbances of sweat secretion after complete lesions of peripheral nerves
    • Guttmann, L.: Topographic studies of disturbances of sweat secretion after complete lesions of peripheral nerves. J. Neurol. Psychiatry 3 (1940) 197-210
    • (1940) J. Neurol. Psychiatry , vol.3 , pp. 197-210
    • Guttmann, L.1
  • 19
    • 0021366170 scopus 로고
    • Quantitation of the sweating deficiency in diabetes mellitus
    • Kennedy, W. R., M. Sakuta, D. Sutherland, F. C. Goetz: Quantitation of the sweating deficiency in diabetes mellitus. Ann. Neurol. 15 (1984) 482-488
    • (1984) Ann. Neurol. , vol.15 , pp. 482-488
    • Kennedy, W.R.1    Sakuta, M.2    Sutherland, D.3    Goetz, F.C.4
  • 23
    • 0026019711 scopus 로고
    • Allgrove syndrome: An autosomal recessive syndrome of ACTH msensitivity, achalasia and alacrima
    • Moore, P. S. J., R. M. Couch, Y. S. Perry, E. P. Shuckett, J. S. D. Winter: Allgrove syndrome: an autosomal recessive syndrome of ACTH msensitivity, achalasia and alacrima Clin. Endocrinol. 34 (1991) 107-114
    • (1991) Clin. Endocrinol. , vol.34 , pp. 107-114
    • Moore, P.S.J.1    Couch, R.M.2    Perry, Y.S.3    Shuckett, E.P.4    Winter, J.S.D.5
  • 24
    • 0019839851 scopus 로고
    • A new type of non-progressive sensory neuropathy in children with atypical dysautonomia
    • Berl
    • Nordborg, C., N. Conradi, P. Sourander, B. Westerberg: A new type of non-progressive sensory neuropathy in children with atypical dysautonomia. Acta Neuropathol. (Berl) 55 (1981) 135-141
    • (1981) Acta Neuropathol. , vol.55 , pp. 135-141
    • Nordborg, C.1    Conradi, N.2    Sourander, P.3    Westerberg, B.4
  • 25
    • 0014792207 scopus 로고
    • The tongue and taste in familial dysautonomia
    • Pearson, J., M. J. Finegold, G. Budzilovich. The tongue and taste in familial dysautonomia. Pediatrics 45 (1970) 739-745
    • (1970) Pediatrics , vol.45 , pp. 739-745
    • Pearson, J.1    Finegold, M.J.2    Budzilovich, G.3
  • 27
    • 0017927931 scopus 로고
    • Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia
    • Pearson, J., B. A. Pytel, N. Grover-Johnson, F. Axelrod, J. Dancis: Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J. Neurol. Sci. 35 (1978) 77-92
    • (1978) J. Neurol. Sci. , vol.35 , pp. 77-92
    • Pearson, J.1    Pytel, B.A.2    Grover-Johnson, N.3    Axelrod, F.4    Dancis, J.5
  • 28
    • 0018166231 scopus 로고
    • Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia
    • Pearson, J., B. A Pytel: Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J. Neurol. Sci. 39 (1978) 47-59
    • (1978) J. Neurol. Sci. , vol.39 , pp. 47-59
    • Pearson, J.1    Pytel, B.A.2
  • 29
    • 0018170695 scopus 로고
    • Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia
    • Pearson, J., B. Pytel: Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia. J. Neurol. Sci 39 (1978) 123-130
    • (1978) J. Neurol. Sci , vol.39 , pp. 123-130
    • Pearson, J.1    Pytel, B.2
  • 30
    • 0018631450 scopus 로고
    • Familial dysautonomia
    • Pearson, J.: Familial dysautonomia (a brief review). J. Auton Nerv. Syst. 1 (1979) 119-126
    • (1979) J. Auton Nerv. Syst. , vol.1 , pp. 119-126
    • Pearson, J.1
  • 32
    • 0022621447 scopus 로고
    • Dilute solutions of phenylephrine and pilocarpine in the diagnosis of disordered autonomic innervation of the ins. Observations in normal subjects, and in the syndromes of Homer and Holmes-Adie
    • Ramsay, D. A.: Dilute solutions of phenylephrine and pilocarpine in the diagnosis of disordered autonomic innervation of the ins. Observations in normal subjects, and in the syndromes of Homer and Holmes-Adie. J. Neurol. Sci. 73 (1986) 125-134
    • (1986) J. Neurol. Sci. , vol.73 , pp. 125-134
    • Ramsay, D.A.1
  • 33
    • 0021036479 scopus 로고
    • Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomie disorders
    • Rechthand, E., R. Reife, J. G. Kaplan: Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomie disorders. Neurology 33 (1983) 1495-1497
    • (1983) Neurology , vol.33 , pp. 1495-1497
    • Rechthand, E.1    Reife, R.2    Kaplan, J.G.3
  • 34
    • 0013889790 scopus 로고
    • Familial dysautonomia differentiated from related disorders
    • Riley, C. M., R. H. Moore: Familial dysautonomia differentiated from related disorders Pediatrics 37 (1966) 430-446
    • (1966) Pediatrics , vol.37 , pp. 430-446
    • Riley, C.M.1    Moore, R.H.2
  • 35
    • 0014911332 scopus 로고
    • Familial dysautonomia
    • Riley, C. M.: Familial dysautonomia. (Letter) J. Pediatr. 77 (1970) 1102
    • (1970) J. Pediatr. , vol.77 , pp. 1102
    • Riley, C.M.1
  • 37
    • 0014732972 scopus 로고
    • A clinical entity simulating familial dysautonomia in a North African Jewish family
    • Schmidt, R., W. J. Alkan, S. W. Moses, G. Mundel, S. Roizen: A clinical entity simulating familial dysautonomia in a North African Jewish family. J. Pediatr 76 (1970) 283-288
    • (1970) J. Pediatr , vol.76 , pp. 283-288
    • Schmidt, R.1    Alkan, W.J.2    Moses, S.W.3    Mundel, G.4    Roizen, S.5
  • 38
    • 8944242974 scopus 로고
    • Familial dysautonomia
    • De Jong, J. M. B. V. (Ed.): Hereditary neuropathies and spinocerebellar atrophies. New York, Elsevier science publishers B. V.
    • Solitare, G. B.: Familial dysautonomia. In. De Jong, J. M. B. V. (Ed.): Handbook of Clinical Neurology Vol 16 (60). Hereditary neuropathies and spinocerebellar atrophies. New York, Elsevier science publishers B. V. (1991) 23-38
    • (1991) Handbook of Clinical Neurology , vol.16 , Issue.60 , pp. 23-38
    • Solitare, G.B.1
  • 39
    • 0023104980 scopus 로고
    • Glucocorticoid insufficiency, achalasia, alacrima with autonomie and motor neuropathy
    • Stuckey, B. G., F. L. Mastaglia, W. D. Reed, P. T. Pullan: Glucocorticoid insufficiency, achalasia, alacrima with autonomie and motor neuropathy. Ann. Intern. Med. 106 (1987) 62-64
    • (1987) Ann. Intern. Med. , vol.106 , pp. 62-64
    • Stuckey, B.G.1    Mastaglia, F.L.2    Reed, W.D.3    Pullan, P.T.4
  • 40
    • 0015867370 scopus 로고
    • Autonomie dysfunction in four patients with congenital insensitivity to pain
    • Thrush, D. C.: Autonomie dysfunction in four patients with congenital insensitivity to pain. Brain 96 (1973) 591-600
    • (1973) Brain , vol.96 , pp. 591-600
    • Thrush, D.C.1
  • 42
    • 0014820613 scopus 로고
    • Absence of taste in type II familial dysautonomia: Unresponsiveness to methaeholine despite the presence of taste buds
    • Wolfe, S. M., R. I. Henkin: Absence of taste in type II familial dysautonomia: Unresponsiveness to methaeholine despite the presence of taste buds. J Pediatr 77 (1970) 103-108
    • (1970) J Pediatr , vol.77 , pp. 103-108
    • Wolfe, S.M.1    Henkin, R.I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.