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Volumn 3, Issue 1, 1999, Pages 33-38

Familial pontocerebellar hypoplasia type I with anterior horn cell disease

Author keywords

Anterior horn cell disease; Congenital contractures; Olivopontocerebellar atrophy; Pontocerebellar hypoplasia; Spinal muscular atrophy; Werdnig Hoffmann disease

Indexed keywords

ANTERIOR HORN CELL DISEASE; AREFLEXIA; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CONTRACTURE; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROPATHOLOGY; NEWBORN; PONS ANGLE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SIBLING;

EID: 0032911790     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.1999.0177     Document Type: Article
Times cited : (34)

References (20)
  • 1
    • 0014787658 scopus 로고
    • The olivopontocerebellar atrophies: A review
    • Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: A review. Medicine 1970; 49: 227-241.
    • (1970) Medicine , vol.49 , pp. 227-241
    • Konigsmark, B.W.1    Weiner, L.P.2
  • 2
    • 0020076144 scopus 로고
    • Olivopontocerebellar atrophy. A review of 117 cases
    • Berciano J. Olivopontocerebellar atrophy. A review of 117 cases. J Neurol Sci 1982; 53: 253-272.
    • (1982) J Neurol Sci , vol.53 , pp. 253-272
    • Berciano, J.1
  • 3
    • 0019494975 scopus 로고
    • Olivopontocerebellar atrophy in children: A report of seven cases in two families
    • Colan RV, Snead OC, Ceballos R. Olivopontocerebellar atrophy in children: A report of seven cases in two families. Ann Neurol 1981; 10: 355-363.
    • (1981) Ann Neurol , vol.10 , pp. 355-363
    • Colan, R.V.1    Snead, O.C.2    Ceballos, R.3
  • 4
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15: 411-422.
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 5
    • 0025320510 scopus 로고
    • Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)
    • Chou SM, Gilbert EF, Chun RWM et al. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol 1990; 9: 21-32.
    • (1990) Clin Neuropathol , vol.9 , pp. 21-32
    • Chou, S.M.1    Gilbert, E.F.2    Chun, R.W.M.3
  • 6
    • 0017687503 scopus 로고
    • Anterior horn cell disease associated with pontocerebellar hypoplasia in infants
    • Goutières F, Aicardi J, Farkas E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiat 1977; 40: 370-378.
    • (1977) J Neurol Neurosurg Psychiat , vol.40 , pp. 370-378
    • Goutières, F.1    Aicardi, J.2    Farkas, E.3
  • 7
    • 0002513078 scopus 로고
    • Cerebellar hypoplasia in Werdnig-Hoffmann disease
    • Norman RM. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 1961; 36: 96-101.
    • (1961) Arch Dis Child , vol.36 , pp. 96-101
    • Norman, R.M.1
  • 8
    • 0025298612 scopus 로고
    • Inherited syndrome of microcephalus, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset
    • Barth PG, Vrensen GF JM, Uylings HBM et al. Inherited syndrome of microcephalus, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset. J Neurol Sci 1990: 97: 25-42.
    • (1990) J Neurol Sci , vol.97 , pp. 25-42
    • Barth, P.G.1    Vrensen, G.F.J.M.2    Uylings, H.B.M.3
  • 9
    • 0017779862 scopus 로고
    • Hypoplasia ponto-neocerebellaris
    • Pfeiffer J, Pfeiffer RA. Hypoplasia ponto-neocerebellaris. J Neurol 1977; 215: 241-251.
    • (1977) J Neurol , vol.215 , pp. 241-251
    • Pfeiffer, J.1    Pfeiffer, R.A.2
  • 10
    • 0028887665 scopus 로고
    • Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration
    • Rudnik-Schöneborn S, Wirth B, Röhrig D, Saule H, Zerres K. Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. Neuromusc Disord 1995; 5: 19-23.
    • (1995) Neuromusc Disord , vol.5 , pp. 19-23
    • Rudnik-Schöneborn, S.1    Wirth, B.2    Röhrig, D.3    Saule, H.4    Zerres, K.5
  • 11
    • 0013489746 scopus 로고
    • Cerebellar hypoplasia in combination with anterior horn cell disease in children_rfsti J Neurol
    • Proc.11th World Congress of Neurology
    • Procopis PG, Bale P. Cerebellar hypoplasia in combination with anterior horn cell disease in children. Proc.11th World Congress of Neurology. J Neurol 1977; (Suppl): 47.
    • (1977) , Issue.SUPPL. , pp. 47
    • Procopis, P.G.1    Bale, P.2
  • 13
    • 0013561065 scopus 로고
    • Cerebellar hypoplasia in Werdnig-Hoffmann disease
    • Weinberg AG, Kirkpatrick JB. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Dev Med Child Neurol 1975; 13: 621-624.
    • (1975) Dev Med Child Neurol , vol.13 , pp. 621-624
    • Weinberg, A.G.1    Kirkpatrick, J.B.2
  • 14
    • 0025269303 scopus 로고
    • Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease)
    • Kamoshita S, Takei Y, Miyao M, Yanagisawa M. Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Pediatr Pathol 1990; 10: 133-142.
    • (1990) Pediatr Pathol , vol.10 , pp. 133-142
    • Kamoshita, S.1    Takei, Y.2    Miyao, M.3    Yanagisawa, M.4
  • 15
    • 0021236307 scopus 로고
    • Amyotrophic cerebellar hypoplasia: A specific form of infantile spinal atrophy
    • de Leon GA, Grover WD, D'Cruz CA. Amyotrophic cerebellar hypoplasia: A specific form of infantile spinal atrophy. Acta Neuropathol (Berlin) 1984; 63: 282-286.
    • (1984) Acta Neuropathol (Berlin) , vol.63 , pp. 282-286
    • De Leon, G.A.1    Grover, W.D.2    D'Cruz, C.A.3
  • 16
    • 0018948433 scopus 로고
    • Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease
    • Steiman GS, Rorke LB, Brown MJ. Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. Ann Neurol 1980; 8: 317-324.
    • (1980) Ann Neurol , vol.8 , pp. 317-324
    • Steiman, G.S.1    Rorke, L.B.2    Brown, M.J.3
  • 17
    • 0013544131 scopus 로고
    • Embryonale entwicklung des menschen
    • Voss H, Herrlinger R (eds). Stuttgart: Gustav Fischer Verlag
    • Schumacher GH. Embryonale entwicklung des menschen. In: Voss H, Herrlinger R (eds) Taschenbuch der Anatomie (9th Edn). Stuttgart: Gustav Fischer Verlag, 1989.
    • (1989) Taschenbuch der Anatomie (9th Edn)
    • Schumacher, G.H.1
  • 18
    • 0029926857 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
    • Rudnik-Schöneborn S, Forkert R, Hahnen E et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996; 27: 8-15
    • (1996) Neuropediatrics , vol.27 , pp. 8-15
    • Rudnik-Schöneborn, S.1    Forkert, R.2    Hahnen, E.3
  • 19
    • 0028854467 scopus 로고
    • Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q
    • Dubowitz V, Daniels RJ, Davies KE. Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q. Neuromusc Disord 1995; 5: 25-29.
    • (1995) Neuromusc Disord , vol.5 , pp. 25-29
    • Dubowitz, V.1    Daniels, R.J.2    Davies, K.E.3
  • 20
    • 0027057672 scopus 로고
    • Meeting report: International SMA consortium meeting
    • 26-28 June 1992, Bonn, Germany
    • Munsat TL, Davies KE. Meeting report: International SMA consortium meeting, 26-28 June 1992, Bonn, Germany. Neuromuscul Disord 1992: 2: 423-428.
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.