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Volumn 1, Issue 4, 1997, Pages 109-114

Neuronal ceroid lipofuscinosis in the Czech Republic: Analysis of 57 cases Report of the 'Prague NCL group'

Author keywords

Electrophysiology; Epidemiology; Histochemistry; Neuronal ceroid lipofuscinosis; Ultrastructure

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN; CHILD; CLASSIFICATION; CZECH REPUBLIC; FEMALE; GENE FREQUENCY; GENETICS; HUMAN; INFANT; MALE; NEUROLOGIC EXAMINATION; NEURONAL CEROID LIPOFUSCINOSIS; PATHOLOGY; PHENOTYPE; POPULATION GENETICS; PRESCHOOL CHILD;

EID: 0031290291     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(97)80041-4     Document Type: Article
Times cited : (30)

References (23)
  • 2
    • 0001536275 scopus 로고    scopus 로고
    • Lysosomal and peroxisomal disorders
    • Graham DI, Lantos PL (eds) London: Arnold
    • Lake BD. Lysosomal and peroxisomal disorders. In: Graham DI, Lantos PL (eds) Greenfield's Neuropathology. London: Arnold, 1997: 668-675.
    • (1997) Greenfield's Neuropathology , pp. 668-675
    • Lake, B.D.1
  • 3
    • 0029977035 scopus 로고    scopus 로고
    • Recent advances in the molecular genetics of the neuronal ceroid-lipofuscinoses
    • Mole SE. Recent advances in the molecular genetics of the neuronal ceroid-lipofuscinoses. J Inher Metab Dis 1996; 19: 269-274.
    • (1996) J Inher Metab Dis , vol.19 , pp. 269-274
    • Mole, S.E.1
  • 4
    • 0024254715 scopus 로고
    • Kufs' disease: Clinical features and forms
    • Berkovic SF, Andermann F, Andermann E, et al. Kufs' disease: clinical features and forms. Am J Med Genet 1988; 5 (Suppl): 105-109.
    • (1988) Am J Med Genet , vol.5 , Issue.SUPPL. , pp. 105-109
    • Berkovic, S.F.1    Andermann, F.2    Andermann, E.3
  • 5
    • 0027225696 scopus 로고
    • Human forms of neuronal ceroid-lipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992
    • Kohlschutter A, Gardiner RM, Goebel HH. Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. J Inher Metab Dis 1993; 16: 241-244.
    • (1993) J Inher Metab Dis , vol.16 , pp. 241-244
    • Kohlschutter, A.1    Gardiner, R.M.2    Goebel, H.H.3
  • 6
    • 1842390898 scopus 로고
    • The evolution of EEG features in Tay-Sachs disease and amaurotic family idiocy in 24 children
    • Kellaway P, Petersen I (eds) Stockholm: Almquist and Wiksell
    • Pampiglione G, Lehovský M. The evolution of EEG features in Tay-Sachs disease and amaurotic family idiocy in 24 children. In: Kellaway P, Petersen I (eds) Clinical Electroencephalography of Children. Stockholm: Almquist and Wiksell, 1968: 287-306.
    • (1968) Clinical Electroencephalography of Children , pp. 287-306
    • Pampiglione, G.1    Lehovský, M.2
  • 7
    • 0027200417 scopus 로고
    • Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria
    • Santavuori P, Vanhanen SL, Saino K, et al. Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria. J Inher Metab Dis 1993; 16: 227-229.
    • (1993) J Inher Metab Dis , vol.16 , pp. 227-229
    • Santavuori, P.1    Vanhanen, S.L.2    Saino, K.3
  • 8
    • 0025736263 scopus 로고
    • The spectrum of Janský-Bielschowsky disease
    • Santavuori P, Rapola J, Nuutila A. et al. The spectrum of Janský-Bielschowsky disease. Neuropediatrics 1991; 22: 92-96.
    • (1991) Neuropediatrics , vol.22 , pp. 92-96
    • Santavuori, P.1    Rapola, J.2    Nuutila, A.3
  • 9
    • 0002420213 scopus 로고
    • The natural history of Janský-Bielschowsky's and Batten's disease
    • Armstrong G, Kopang N, Rider JA (eds) Amsterdam: Elsevier
    • Warburg M. The natural history of Janský-Bielschowsky's and Batten's disease. In: Armstrong G, Kopang N, Rider JA (eds) Ceroid-Lipofuscinosis (Batten's Disease). Amsterdam: Elsevier, 1982: 35-44.
    • (1982) Ceroid-Lipofuscinosis (Batten's Disease) , pp. 35-44
    • Warburg, M.1
  • 10
    • 0017404516 scopus 로고
    • The ultrastructural characteristics of the abnormal cytosomes in Batten - Kufs disease
    • Carpenter S, Andermann FA, Jacob JC, Andermann E. The ultrastructural characteristics of the abnormal cytosomes in Batten - Kufs disease. Brain 1977; 100: 137-115.
    • (1977) Brain , vol.100 , pp. 137-1115
    • Carpenter, S.1    Andermann, F.A.2    Jacob, J.C.3    Andermann, E.4
  • 11
    • 0030951610 scopus 로고    scopus 로고
    • Follow-up study of subunit c of mitochondrial at synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
    • Elleder M, Sokolová J, Hřebíček M. Follow-up study of subunit c of mitochondrial AT synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol 1997; 93: 379-390.
    • (1997) Acta Neuropathol , vol.93 , pp. 379-390
    • Elleder, M.1    Sokolová, J.2    Hřebíček, M.3
  • 12
    • 23744469139 scopus 로고    scopus 로고
    • Neuronal pericaryal spheroids in neuronal ceroid-lipofuscinosis (Batten's disease)
    • in press
    • Elleder M, Tyynella J. Neuronal pericaryal spheroids in neuronal ceroid-lipofuscinosis (Batten's disease). Clin Neuropathol 1997 (in press).
    • (1997) Clin Neuropathol
    • Elleder, M.1    Tyynella, J.2
  • 13
    • 0017887981 scopus 로고
    • Early-juvenile Batten's disease - A recognisable sub-group distinct from other forms of Batten's disease
    • Lake BD, Cavanagh NPC. Early-juvenile Batten's disease - a recognisable sub-group distinct from other forms of Batten's disease. J Neurol Sci 1978; 36: 265-271.
    • (1978) J Neurol Sci , vol.36 , pp. 265-271
    • Lake, B.D.1    Cavanagh, N.P.C.2
  • 14
    • 0017224308 scopus 로고
    • Infantile form of so-called neuronal ceroid-lipofuscinosis
    • in Czech
    • Elleder M, Brachfeld K, Jirásek A, Šmíd F. Infantile form of so-called neuronal ceroid-lipofuscinosis. Sborn Lék 1976; 78: 316-319 (in Czech).
    • (1976) Sborn Lék , vol.78 , pp. 316-319
    • Elleder, M.1    Brachfeld, K.2    Jirásek, A.3    Šmíd, F.4
  • 15
    • 0016174506 scopus 로고
    • Infantile type of so-called neuronal ceroid-lipofuscinosis
    • Santavuori P, Haltia M, Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev Med Child Neurol 1974; 16: 644-653.
    • (1974) Dev Med Child Neurol , vol.16 , pp. 644-653
    • Santavuori, P.1    Haltia, M.2    Rapola, J.3
  • 16
    • 0030871322 scopus 로고    scopus 로고
    • Strategy for mutation detection in CLN3: Characterization of two Finnish mutations
    • Munroe P, O Rawe AM, Mitchinson HM et al. Strategy for mutation detection in CLN3: characterization of two Finnish mutations. Neuropediatrics 1997; 28: 15-17.
    • (1997) Neuropediatrics , vol.28 , pp. 15-17
    • Munroe, P.1    O Rawe, A.M.2    Mitchinson, H.M.3
  • 17
    • 0026569056 scopus 로고
    • Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders
    • Clausen M, Heim P, Knispel J. et al. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet 1992; 42: 536-538.
    • (1992) Am J Med Genet , vol.42 , pp. 536-538
    • Clausen, M.1    Heim, P.2    Knispel, J.3
  • 18
    • 0029079209 scopus 로고
    • Neuronal ceroid-lipofuscinosis in Italy: An epidemiological study
    • Gardona F, Rosati E. Neuronal ceroid-lipofuscinosis in Italy: an epidemiological study. Am J Med Genet 1995; 57: 142-143.
    • (1995) Am J Med Genet , vol.57 , pp. 142-143
    • Gardona, F.1    Rosati, E.2
  • 19
    • 0024215557 scopus 로고
    • Juvenile neuronal ceroid-lipofuscinosis (JNCL): Quantitative description of its clinical variability
    • Kohlschutter A, Laabs R, Albani M. Juvenile neuronal ceroid-lipofuscinosis (JNCL): quantitative description of its clinical variability. Acta Pediatr Scand 1988; 77: 867-872.
    • (1988) Acta Pediatr Scand , vol.77 , pp. 867-872
    • Kohlschutter, A.1    Laabs, R.2    Albani, M.3
  • 20
    • 0029070732 scopus 로고
    • Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients
    • Nardocci N, Verga ML, Binelli S et al. Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. Am J Med Genet 1995; 57: 137-141.
    • (1995) Am J Med Genet , vol.57 , pp. 137-141
    • Nardocci, N.1    Verga, M.L.2    Binelli, S.3
  • 22
    • 0030937327 scopus 로고    scopus 로고
    • Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
    • Sharp JD, Wheeler RB, Lake BD. et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997; 6: 591-595.
    • (1997) Hum Mol Genet , vol.6 , pp. 591-595
    • Sharp, J.D.1    Wheeler, R.B.2    Lake, B.D.3
  • 23
    • 0029153109 scopus 로고
    • Mutation in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
    • Vesa J, Hellsten E, Verkruyse LA. et al. Mutation in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995; 376: 584-587.
    • (1995) Nature , vol.376 , pp. 584-587
    • Vesa, J.1    Hellsten, E.2    Verkruyse, L.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.