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Volumn 119, Issue 3, 1996, Pages 1011-1021

Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family

Author keywords

Familial dysautonomia (Riley Day syndrome); Fungiform papillae on the tongue (or ageusia); Hereditary ataxia; Hereditary sensory and autonomic neuropathy; Thermoanalgesia

Indexed keywords

ADULT; AGED; AGEUSIA; ANALGESIA; ARTICLE; AUTONOMIC NEUROPATHY; BLOOD PRESSURE REGULATION; BRAIN STEM; BRAIN VENTRICLE; CASE REPORT; CEREBELLUM; CHOLINERGIC SYSTEM; CONSTIPATION; CORPUS CALLOSUM; DIARRHEA; DYSPHAGIA; HEMIFACIAL ATROPHY; HEREDITARY ATAXIA; HUMAN; HUMAN TISSUE; LACRIMAL FLUID; MALE; MYELINATED NERVE; NERVE BIOPSY; NERVE FIBER DEGENERATION; ONSET AGE; PARESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; SURAL NERVE; TASTE BUD; TONGUE; URINARY DYSFUNCTION; VASOMOTOR REFLEX;

EID: 0030012898     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.3.1011     Document Type: Article
Times cited : (12)

References (45)
  • 1
    • 0015013412 scopus 로고
    • Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy
    • Aguayo AJ, Nair CPV, Bray GM. Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy. Arch Neurol 1971; 24: 106-16.
    • (1971) Arch Neurol , vol.24 , pp. 106-116
    • Aguayo, A.J.1    Nair, C.P.V.2    Bray, G.M.3
  • 2
    • 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: 947-54.
    • (1984) Am J Dis Child , vol.138 , pp. 947-954
    • Axelrod, F.B.1    Pearson, J.2
  • 3
    • 0020567705 scopus 로고
    • Congenital autonomic dysfunction with universal pain loss
    • Axelrod FB, Cash R, Pearson J. Congenital autonomic dysfunction with universal pain loss. J Pediatr 1983; 103: 60-4.
    • (1983) J Pediatr , vol.103 , pp. 60-64
    • Axelrod, F.B.1    Cash, R.2    Pearson, J.3
  • 5
    • 0021355782 scopus 로고
    • Large-fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration
    • Bennett RH, Ludvigson P, DeLeon G, Berry G. Large-fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration. Arch Neurol 1984; 41: 175-8.
    • (1984) Arch Neurol , vol.41 , pp. 175-178
    • Bennett, R.H.1    Ludvigson, P.2    DeLeon, G.3    Berry, G.4
  • 6
    • 0006170764 scopus 로고
    • A neuropathological study of familial dysautonomia (Riley-Day syndrome) in siblings
    • Brown WJ, Beauchemin JA, Linde LM. A neuropathological study of familial dysautonomia (Riley-Day syndrome) in siblings. J Neurol Neurosurg Psychiatry 1964; 27: 131-9.
    • (1964) J Neurol Neurosurg Psychiatry , vol.27 , pp. 131-139
    • Brown, W.J.1    Beauchemin, J.A.2    Linde, L.M.3
  • 7
    • 76549227751 scopus 로고
    • Taste and the chorda tympani
    • Bull TR. Taste and the chorda tympani. J Lar Otol 1965; 79: 479-93.
    • (1965) J Lar Otol , vol.79 , pp. 479-493
    • Bull, T.R.1
  • 8
    • 0006221537 scopus 로고
    • Familial dysautonomia. Case report with autopsy
    • Cohen P, Solomon NH. Familial dysautonomia. Case report with autopsy. J Pediat 1955; 46: 663-70.
    • (1955) J Pediat , vol.46 , pp. 663-670
    • Cohen, P.1    Solomon, N.H.2
  • 9
    • 7144227523 scopus 로고
    • Familial dysautonomia (Riley-Day syndrome)
    • Bannister R, editor. Oxford: Oxford University Press
    • Dancis J. Familial dysautonomia (Riley-Day syndrome). In: Bannister R, editor. Autonomic failure. Oxford: Oxford University Press, 1983: 615-39.
    • (1983) Autonomic Failure , pp. 615-639
    • Dancis, J.1
  • 10
    • 0345725877 scopus 로고
    • Congenital alacrima in familial autonomic dysfunction
    • Dunnington JH. Congenital alacrima in familial autonomic dysfunction. Arch Ophthal 1954; 52: 925-31.
    • (1954) Arch Ophthal , vol.52 , pp. 925-931
    • Dunnington, J.H.1
  • 11
    • 0000157043 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
    • Dyck PJ, Thomas PK, editors. Philadelphia: W. B. Saunders
    • Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 3rd ed. Philadelphia: W. B. Saunders, 1993: 1065-93.
    • (1993) Peripheral Neuropathy. 3rd Ed. , pp. 1065-1093
    • Dyck, P.J.1
  • 12
    • 0014109321 scopus 로고
    • Spinal cord changes in familial dysautonomia
    • Fogelson MH, Rorke LB, Kaye R. Spinal cord changes in familial dysautonomia. Arch Neurol 1967; 17: 103-8.
    • (1967) Arch Neurol , vol.17 , pp. 103-108
    • Fogelson, M.H.1    Rorke, L.B.2    Kaye, R.3
  • 13
    • 0026974907 scopus 로고
    • Big-toe localizing test - Clinical study of proprioceptive localization
    • Fukutake T, Hirayama K. Big-toe localizing test - clinical study of proprioceptive localization. [Japanese]. Rinsho Shinkeigaku 1992; 32: 1213-19.
    • (1992) Rinsho Shinkeigaku , vol.32 , pp. 1213-1219
    • Fukutake, T.1    Hirayama, K.2
  • 14
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of 'the Drew family of Walworth'
    • Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 1982; 105: 1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 15
    • 0022627347 scopus 로고
    • Thumb localizing test - Examination for a disturbance of articular localization
    • Hirayama K, Fukutake T, Kawamura M. Thumb localizing test - examination for a disturbance of articular localization. [Japanese]. Rinsho Shinkeigaku 1986; 26: 448-54.
    • (1986) Rinsho Shinkeigaku , vol.26 , pp. 448-454
    • Hirayama, K.1    Fukutake, T.2    Kawamura, M.3
  • 16
    • 0019785605 scopus 로고
    • Congenital cholinergic nervous system dysfunction in identical twins
    • Kien CL, Herrmann J, Hogan W. Congenital cholinergic nervous system dysfunction in identical twins. Ann Neurol 1981; 10: 576-9.
    • (1981) Ann Neurol , vol.10 , pp. 576-579
    • Kien, C.L.1    Herrmann, J.2    Hogan, W.3
  • 17
    • 8944228360 scopus 로고
    • Acute idiopathic pandysautonomia: Clinical features, laboratory studies and criteria
    • 1983. Amsterdam: Excerpta Medica
    • Kita K, Hirayama K, Ito N. Acute idiopathic pandysautonomia: clinical features, laboratory studies and criteria. Proceedings of the International Symposium on Peripheral Neuropathy, 1983. Amsterdam: Excerpta Medica, 1984: 151-64.
    • (1984) Proceedings of the International Symposium on Peripheral Neuropathy , pp. 151-164
    • Kita, K.1    Hirayama, K.2    Ito, N.3
  • 20
    • 0014867168 scopus 로고
    • Clinical neurological aspects of familial dysautonomia
    • Mahloudji M, Brunt PW, McKusick VA. Clinical neurological aspects of familial dysautonomia. J Neurol Sci 1970; 11: 383-95.
    • (1970) J Neurol Sci , vol.11 , pp. 383-395
    • Mahloudji, M.1    Brunt, P.W.2    McKusick, V.A.3
  • 21
    • 0019987554 scopus 로고
    • Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration
    • Marsden CD, Obeso JA, Lang AE. Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. Neurology 1982; 32: 1031-2.
    • (1982) Neurology , vol.32 , pp. 1031-1032
    • Marsden, C.D.1    Obeso, J.A.2    Lang, A.E.3
  • 22
    • 0019377696 scopus 로고
    • Peripheral neuropathy in spinocerebellar degenerations
    • McLeod JG, Evans WA. Peripheral neuropathy in spinocerebellar degenerations. Muscle Nerve 1981; 4: 51-61.
    • (1981) Muscle Nerve , vol.4 , pp. 51-61
    • McLeod, J.G.1    Evans, W.A.2
  • 23
    • 8944223896 scopus 로고
    • Sensory polyneuropathy accompanied by generalized insensitivity to pain
    • Tokyo
    • Nokura K, Sugimura K, Inagaki T, Mitake S, Yamamoto M. Sensory polyneuropathy accompanied by generalized insensitivity to pain. [Japanese]. Neurol Med (Tokyo) 1991; 35: 530-6.
    • (1991) Neurol Med , vol.35 , pp. 530-536
    • Nokura, K.1    Sugimura, K.2    Inagaki, T.3    Mitake, S.4    Yamamoto, M.5
  • 24
    • 0019839851 scopus 로고
    • A new type of non-progressive sensory neuropathy in children with atypical dysautonomia
    • Berl
    • Nordborg C, Conradi N, Sourander P, Westerberg B. A new type of non-progressive sensory neuropathy in children with atypical dysautonomia. Acta Neuropathol (Berl) 1981; 55: 135-41.
    • (1981) Acta Neuropathol , vol.55 , pp. 135-141
    • Nordborg, C.1    Conradi, N.2    Sourander, P.3    Westerberg, B.4
  • 26
    • 0002249998 scopus 로고
    • Hereditary sensory neuropathy
    • Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, editors. Amsterdam: Elsevier
    • Ouvrier RA, McLeod JG. Hereditary sensory neuropathy. In: Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, editors. Handbook of clinical neurology, Vol. 60. Amsterdam: Elsevier, 1991: 5-22.
    • (1991) Handbook of Clinical Neurology , vol.60 , pp. 5-22
    • Ouvrier, R.A.1    McLeod, J.G.2
  • 27
    • 0014792207 scopus 로고
    • The tongue and taste in familial dysautonomia
    • Pearson J, Finegold MJ, Budzilovich G. The tongue and taste in familial dysautonomia. Pediatrics 1970; 45: 739-45.
    • (1970) Pediatrics , vol.45 , pp. 739-745
    • Pearson, J.1    Finegold, M.J.2    Budzilovich, G.3
  • 28
    • 0015062172 scopus 로고
    • Sensory, motor, and autonomic dysfunction: The nervous system in familial dysautonomia
    • Pearson J, Budzilovich G, Finegold MJ. Sensory, motor, and autonomic dysfunction: the nervous system in familial dysautonomia. Neurology 1971; 21: 486-93.
    • (1971) Neurology , vol.21 , pp. 486-493
    • Pearson, J.1    Budzilovich, G.2    Finegold, M.J.3
  • 29
    • 0025170522 scopus 로고
    • Benign hereditary cerebellar ataxia with extensive thermoanalgesia
    • Pollock M, Kies B. Benign hereditary cerebellar ataxia with extensive thermoanalgesia. Brain 1990; 113: 857-65.
    • (1990) Brain , vol.113 , pp. 857-865
    • Pollock, M.1    Kies, B.2
  • 30
    • 0016919076 scopus 로고
    • 2 gangliosidosis: Atypical spinocerebellar degeneration in a Jewish sibship
    • 2 gangliosidosis: atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976; 33: 120-30.
    • (1976) Arch Neurol , vol.33 , pp. 120-130
    • Rapin, I.1    Suzuki, K.2    Suzuki, K.3    Valsamis, M.P.4
  • 31
    • 0013889790 scopus 로고
    • Familial dysautonomia differentiated from related disorders: Case reports and discussions of current concepts
    • Riley CM, Moore RH. Familial dysautonomia differentiated from related disorders: case reports and discussions of current concepts. Pediatrics 1966; 37: 435-46.
    • (1966) Pediatrics , vol.37 , pp. 435-446
    • Riley, C.M.1    Moore, R.H.2
  • 32
    • 0001294620 scopus 로고
    • Central autonomic dysfunction with defective lacrimation: I. Report of five cases
    • Riley CM, Day RL, Greeley DM, Langford WS. Central autonomic dysfunction with defective lacrimation: I. Report of five cases. Pediatrics 1949; 3: 468-78.
    • (1949) Pediatrics , vol.3 , pp. 468-478
    • Riley, C.M.1    Day, R.L.2    Greeley, D.M.3    Langford, W.S.4
  • 33
    • 72849160194 scopus 로고
    • A neurological syndrome associated with orthostatic hypotension: A clinical-pathologic study
    • Shy GM, Drager GA. A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study. Arch Neurol 1960; 2: 511-27.
    • (1960) Arch Neurol , vol.2 , pp. 511-527
    • Shy, G.M.1    Drager, G.A.2
  • 34
    • 0016709703 scopus 로고
    • Vestibular dysfunction in familial dysautonomia: The Riley-Day syndrome
    • Siggers DC, Haciska DT, McKusick VA. Vestibular dysfunction in familial dysautonomia: the Riley-Day syndrome. Arch Dis Child 1975; 50: 890-3.
    • (1975) Arch Dis Child , vol.50 , pp. 890-893
    • Siggers, D.C.1    Haciska, D.T.2    McKusick, V.A.3
  • 35
    • 0000174814 scopus 로고
    • Response to intradermal histamine in familial dysautonomia-a diagnostic test
    • Smith AA, Dancis J. Response to intradermal histamine in familial dysautonomia-a diagnostic test. J Pediat 1963; 63: 889-94.
    • (1963) J Pediat , vol.63 , pp. 889-894
    • Smith, A.A.1    Dancis, J.2
  • 36
    • 0000367511 scopus 로고
    • Exaggerated response to infused norepinephrine in familial dysautonomia
    • Smith AA, Dancis J. Exaggerated response to infused norepinephrine in familial dysautonomia. N Engl J Med 1964; 270: 704-7.
    • (1964) N Engl J Med , vol.270 , pp. 704-707
    • Smith, A.A.1    Dancis, J.2
  • 37
    • 0013621502 scopus 로고
    • Abnormal catecholamine metabolism in familial dysautonomia
    • Smith AA, Taylor T, Wortis SB. Abnormal catecholamine metabolism in familial dysautonomia. N Engl J Med 1963; 268: 705-7.
    • (1963) N Engl J Med , vol.268 , pp. 705-707
    • Smith, A.A.1    Taylor, T.2    Wortis, S.B.3
  • 38
    • 0012394551 scopus 로고
    • Ocular responses to autonomic drugs in familial dysautonomia
    • Smith AA, Dancis J, Breinin G. Ocular responses to autonomic drugs in familial dysautonomia. Invest Ophthal 1965a; 4: 358-61.
    • (1965) Invest Ophthal , vol.4 , pp. 358-361
    • Smith, A.A.1    Dancis, J.2    Breinin, G.3
  • 39
    • 0001549945 scopus 로고
    • Absence of taste-bud papillae in familial dysautonomia
    • Smith A, Farbman A, Dancis J. Absence of taste-bud papillae in familial dysautonomia. Science 1965b; 147: 1040-1.
    • (1965) Science , vol.147 , pp. 1040-1041
    • Smith, A.1    Farbman, A.2    Dancis, J.3
  • 40
    • 0006262927 scopus 로고
    • Neuropatholgical changes in familial dysautonomia
    • Sohn D, Levine S. Neuropatholgical changes in familial dysautonomia [abstract]. J Neuropathol Exp Neurol 1974; 33: 195.
    • (1974) J Neuropathol Exp Neurol , vol.33 , pp. 195
    • Sohn, D.1    Levine, S.2
  • 41
    • 8944221556 scopus 로고
    • Familial dysautonomia
    • Vinken PJ, Bruyn GW, De Jong JMBV, editors. Amsterdam: North-Holland
    • Solitare GB. Familial dysautonomia. In: Vinken PJ, Bruyn GW, De Jong JMBV, editors. Handbook of clinical neurology, Vol. 21. Amsterdam: North-Holland, 1975: 107-17.
    • (1975) Handbook of Clinical Neurology , vol.21 , pp. 107-117
    • Solitare, G.B.1
  • 42
    • 8944242974 scopus 로고
    • Familial dysautonomia
    • Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, editors. Amsterdam: Elsevier
    • Solitare GB. Familial dysautonomia. In: Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, editors. Handbook of clinical neurology, Vol. 60. Amsterdam: Elsevier, 1991: 23-38.
    • (1991) Handbook of Clinical Neurology , vol.60 , pp. 23-38
    • Solitare, G.B.1
  • 43
    • 0021749671 scopus 로고
    • Galactosylceramide lipidosis: Novel presentation as a slowly progressive spinocerebellar degeneration
    • Thomas PK, Halpern J-P, King RHM, Patrick D. Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration. Ann Neurol 1984; 16: 618-20.
    • (1984) Ann Neurol , vol.16 , pp. 618-620
    • Thomas, P.K.1    Halpern, J.-P.2    King, R.H.M.3    Patrick, D.4
  • 44
    • 0023869811 scopus 로고
    • Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family
    • Wisniewski KE, Madrid RE, Dambska M, Rapin I, Pullarkat R, Sklower S. Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family. J Child Neurol 1988; 3: 33-41.
    • (1988) J Child Neurol , vol.3 , pp. 33-41
    • Wisniewski, K.E.1    Madrid, R.E.2    Dambska, M.3    Rapin, I.4    Pullarkat, R.5    Sklower, S.6


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