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Volumn 65, Issue 1, 2007, Pages 32-35

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Author keywords

Autosomal recessive inheritance; Brown Vialetto van Laere syndrome; Hearing impairment

Indexed keywords

ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE INHERITANCE; BEHAVIOR CHANGE; BLOOD CELL COUNT; BRAZIL; BROWN VIALETTO VAN LAERE SYNDROME; CASE REPORT; CLINICAL EXAMINATION; CRANIAL NERVE; ELECTROMYOGRAPHY; FAMILY HISTORY; FEMALE; HEARING IMPAIRMENT; HUMAN; IMAGE ANALYSIS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PROGRESSIVE BULBAR PALSY; SCHOOL CHILD; SYMPTOMATOLOGY;

EID: 34147132299     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2007000100008     Document Type: Article
Times cited : (11)

References (26)
  • 1
    • 84939120484 scopus 로고
    • Infantile amyotrofic lateral sclerosis of the family type
    • Brown CH. Infantile amyotrofic lateral sclerosis of the family type. J Nerv Ment Dis 1894;21:707-716.
    • (1894) J Nerv Ment Dis , vol.21 , pp. 707-716
    • Brown, C.H.1
  • 2
    • 2542464042 scopus 로고    scopus 로고
    • Vialetto- Van Laere syndrome in two sisters born to consanguineous parents
    • RamachandranNair R, Pameswaran M, Girija AS. Vialetto- Van Laere syndrome in two sisters born to consanguineous parents. Paediatr Neurol 2004;30:354-355.
    • (2004) Paediatr Neurol , vol.30 , pp. 354-355
    • RamachandranNair, R.1    Pameswaran, M.2    Girija, A.S.3
  • 3
    • 0036807543 scopus 로고    scopus 로고
    • Infantile progressive bulbar palsy with deafness
    • Voudris KA, Skardoutsou A, Vagiakou EA. Infantile progressive bulbar palsy with deafness. Brain Dev 2002;24:732-735.
    • (2002) Brain Dev , vol.24 , pp. 732-735
    • Voudris, K.A.1    Skardoutsou, A.2    Vagiakou, E.A.3
  • 7
    • 21244438730 scopus 로고    scopus 로고
    • Brown-Vialetto-van Laere syndrome: A rare syndrome in otology
    • Prabhu HV, Brown MJ. Brown-Vialetto-van Laere syndrome: a rare syndrome in otology. J Laryngol Otol 2005;119: 470-2.
    • (2005) J Laryngol Otol , vol.119 , pp. 470-472
    • Prabhu, H.V.1    Brown, M.J.2
  • 8
    • 22744451651 scopus 로고    scopus 로고
    • Clinical features and neurophysiological follow-up in case of Brown-Vialetto-van Laere syndrome
    • Grandis D, Passadore P, Chinaglia M, Brazzo F, Ravenni R, Cudia P. Clinical features and neurophysiological follow-up in case of Brown-Vialetto-van Laere syndrome. Neuromusc Disord 2005;15:565-568.
    • (2005) Neuromusc Disord , vol.15 , pp. 565-568
    • Grandis, D.1    Passadore, P.2    Chinaglia, M.3    Brazzo, F.4    Ravenni, R.5    Cudia, P.6
  • 10
    • 0020080165 scopus 로고
    • Progressive bulbar paralysis of childhood with deafness: Case report with clinicopathologic correlation
    • Rosemberg S, Lancelootti CLP, Arita F, Campos C. Progressive bulbar paralysis of childhood with deafness: case report with clinicopathologic correlation. Eur Neurol 1982;21:84-89.
    • (1982) Eur Neurol , vol.21 , pp. 84-89
    • Rosemberg, S.1    Lancelootti, C.L.P.2    Arita, F.3    Campos, C.4
  • 13
    • 0023390542 scopus 로고
    • Juvenile onset bulbospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras type motor neuron disease?
    • Summers BA, Swash M, Swartz MS, Ingram DA. Juvenile onset bulbospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras type motor neuron disease? J Neurol 1987;234:440-442.
    • (1987) J Neurol , vol.234 , pp. 440-442
    • Summers, B.A.1    Swash, M.2    Swartz, M.S.3    Ingram, D.A.4
  • 14
    • 0019431614 scopus 로고
    • Ponto-bulbar palsy with deafness (Brown-Vialetto-van Laere syndrome): A report of three cases
    • Gallai V, Hockaday JM, Hughes JT, et al. Ponto-bulbar palsy with deafness (Brown-Vialetto-van Laere syndrome): a report of three cases. J Neurol Sci 1981;50;259-275.
    • (1981) J Neurol Sci , vol.50 , pp. 259-275
    • Gallai, V.1    Hockaday, J.M.2    Hughes, J.T.3
  • 15
    • 0342314442 scopus 로고    scopus 로고
    • Brown-Vialetto-van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?
    • Mégarbané AI, Desguerres I, Rizkallah E, et al. Brown-Vialetto-van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? Am J Med Genet 2000;92:117-121.
    • (2000) Am J Med Genet , vol.92 , pp. 117-121
    • Mégarbané, A.I.1    Desguerres, I.2    Rizkallah, E.3
  • 16
    • 0013934937 scopus 로고
    • Paralysie bulbo pontine chronique progressive familiale avec surdité: Un cas de syndrome de Klippel-Trenaunay dans la meme fratrie
    • Van Laere J. Paralysie bulbo pontine chronique progressive familiale avec surdité: un cas de syndrome de Klippel-Trenaunay dans la meme fratrie. Rev Neurol (Paris) 1966;115:289-295.
    • (1966) Rev Neurol (Paris) , vol.115 , pp. 289-295
    • Van Laere, J.1
  • 17
    • 0002915627 scopus 로고
    • Contributo alla forma ereditaria della pralisi bulbare progressive
    • Vialetto E. Contributo alla forma ereditaria della pralisi bulbare progressive. Riv Sper Freniat 1936;40:1-24.
    • (1936) Riv Sper Freniat , vol.40 , pp. 1-24
    • Vialetto, E.1
  • 18
    • 0036807543 scopus 로고    scopus 로고
    • Infantile progressive bulbar palsy with deafness
    • Voudris KA, Skardoutsou A, Vagiakou EA. Infantile progressive bulbar palsy with deafness. Brain Dev 2002;24:732-735.
    • (2002) Brain Dev , vol.24 , pp. 732-735
    • Voudris, K.A.1    Skardoutsou, A.2    Vagiakou, E.A.3
  • 19
    • 0024509068 scopus 로고
    • Hereditary muscular atrophy with vocal cord paralysis and sesorineural hearing loss: A dominant form of spinal muscular atrophy?
    • Bolthauser E, Lang W, Spillmann T, Holf E. Hereditary muscular atrophy with vocal cord paralysis and sesorineural hearing loss: a dominant form of spinal muscular atrophy? J Med Genet 1989;26:105-108.
    • (1989) J Med Genet , vol.26 , pp. 105-108
    • Bolthauser, E.1    Lang, W.2    Spillmann, T.3    Holf, E.4
  • 21
    • 23944509682 scopus 로고    scopus 로고
    • Brown-Vialetto-Van Laere syndrome: Variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
    • Dipti S, Childs AM, Livingston JH, et al. Brown-Vialetto-Van Laere syndrome: variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 2005; 27:443-446.
    • (2005) Brain Dev , vol.27 , pp. 443-446
    • Dipti, S.1    Childs, A.M.2    Livingston, J.H.3
  • 22
    • 0017089178 scopus 로고
    • Progressive ponto-bulbar palsy with deafness; a clinicopathological study
    • Lombaert A, Dom R, Carton H, Brucher JM. Progressive ponto-bulbar palsy with deafness; a clinicopathological study. Acta Neurol Belg 1976; 76:309-314.
    • (1976) Acta Neurol Belg , vol.76 , pp. 309-314
    • Lombaert, A.1    Dom, R.2    Carton, H.3    Brucher, J.M.4
  • 23
    • 0014169339 scopus 로고
    • Over een newl geval van chosnische bulbopontiene paralysis met doofheid
    • Van Laere J. Over een newl geval van chosnische bulbopontiene paralysis met doofheid. Verh Vlaan Akad Geneesk Belg 1967;30:288-308.
    • (1967) Verh Vlaan Akad Geneesk Belg , vol.30 , pp. 288-308
    • Van Laere, J.1
  • 24
    • 0025193469 scopus 로고
    • Pontobulbar palsy and neurosenssory deafness (Brown-Vialetto-van Laere syndrome) with possible autosomal dominant inheritance
    • Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosenssory deafness (Brown-Vialetto-van Laere syndrome) with possible autosomal dominant inheritance. J Med Gen 1990;27:176-179.
    • (1990) J Med Gen , vol.27 , pp. 176-179
    • Hawkins, S.A.1    Nevin, N.C.2    Harding, A.E.3
  • 25
    • 0031935562 scopus 로고    scopus 로고
    • Syndrome de Brown-Vialettovan Laere: Un cas avec anticorps anti-ganglioside GM1 et revue de la littérature
    • Sztajzel R, Kohler A, Reichart M, et al. Syndrome de Brown-Vialettovan Laere: un cas avec anticorps anti-ganglioside GM1 et revue de la littérature. Rev Neurol (Paris) 2002;154:51-54.
    • (2002) Rev Neurol (Paris) , vol.154 , pp. 51-54
    • Sztajzel, R.1    Kohler, A.2    Reichart, M.3
  • 26
    • 85005372628 scopus 로고
    • The Brown-Vialetto-van Laere syndrome: A case report and literature review
    • Davenport RJ, The Brown-Vialetto-van Laere syndrome: a case report and literature review. Eur J Neurol 1994;1:51-54.
    • (1994) Eur J Neurol , vol.1 , pp. 51-54
    • Davenport, R.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.