메뉴 건너뛰기




Volumn 58, Issue 3 A, 2000, Pages 597-606

Neuronal ceroid lipofuscinoses: A clinical and morphological study of 17 patients from Southern Brazil

Author keywords

Batten Spielmeyer Vogt disease; Haltia Santavuori disease; Jansky Bielschowsky disease; Lysosomal storage disease; Neuronal ceroid lipofuscinoses

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; BRAZIL; CHILD; FEMALE; GENETICS; HUMAN; INFANT; MALE; MIDDLE AGED; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD;

EID: 0034264382     PISSN: 0004282X     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0004-282x2000000400001     Document Type: Article
Times cited : (13)

References (35)
  • 1
    • 0030740542 scopus 로고    scopus 로고
    • Morphologic diagnosis in neuronal ceroid lipofuscinosis
    • Goebel HH. Morphologic diagnosis in neuronal ceroid lipofuscinosis. Neuropediatrics 1997;28:67-69.
    • (1997) Neuropediatrics , vol.28 , pp. 67-69
    • Goebel, H.H.1
  • 2
    • 0031782414 scopus 로고    scopus 로고
    • Workshop on "the genetic and molecular basis of the neuronal ceroid lipofuscinoses"
    • London, UK, November 13-16, 1997
    • Mole SE, Gardiner RM, Goebel HH. Workshop on "The genetic and molecular basis of the neuronal ceroid lipofuscinoses". London, UK, November 13-16, 1997. Eur J Paed Neurol 1998;2:2 (A1-6).
    • (1998) Eur J Paed Neurol , vol.2 , pp. 2
    • Mole, S.E.1    Gardiner, R.M.2    Goebel, H.H.3
  • 3
    • 0031983764 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses, recent advances
    • Goebel HH, Sharp JD. The neuronal ceroid-lipofuscinoses, recent advances. Brain Pathol 1998;8:151-162.
    • (1998) Brain Pathol , vol.8 , pp. 151-162
    • Goebel, H.H.1    Sharp, J.D.2
  • 4
    • 0023917534 scopus 로고
    • Neuronal ceroid-lipofuscinosis in childhood
    • Santavuori P. Neuronal ceroid-lipofuscinosis in childhood. Brain Dev 1988;10:80-83.
    • (1988) Brain Dev , vol.10 , pp. 80-83
    • Santavuori, P.1
  • 5
    • 0029856826 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Goebel HH. The neuronal ceroid-lipofuscinoses. Semin Ped Neurol 1996;3:270-278.
    • (1996) Semin Ped Neurol , vol.3 , pp. 270-278
    • Goebel, H.H.1
  • 6
    • 0026569056 scopus 로고
    • Incidence of neuronal ceroid-lipofuscinoses in West Germany:Variation of a method for studying autosomal recessive disorders
    • Claussen M, Heim P, Knispel J, Goebel HH, Kohlschutter A. 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
    • Claussen, M.1    Heim, P.2    Knispel, J.3    Goebel, H.H.4    Kohlschutter, A.5
  • 7
    • 0017124405 scopus 로고
    • The neuronal ceroid-lipofuscinoses in British Columbia: A clinical epidemiologic and ultrastructural study
    • MacLeod PM, Dolman CL, Change E, et al. The neuronal ceroid-lipofuscinoses in British Columbia: a clinical epidemiologic and ultrastructural study. Birth Defects 1976;12:289-296.
    • (1976) Birth Defects , vol.12 , pp. 289-296
    • MacLeod, P.M.1    Dolman, C.L.2    Change, E.3
  • 8
    • 0029050437 scopus 로고
    • Childhood neuronal ceroid-lipofuscinoses in Argentina
    • Taratuto AL, Saccoliti M, Sevlever G, et al. Childhood neuronal ceroid-lipofuscinoses in Argentina. Am J Med Genet 1995;57:144-149.
    • (1995) Am J Med Genet , vol.57 , pp. 144-149
    • Taratuto, A.L.1    Saccoliti, M.2    Sevlever, G.3
  • 9
    • 0029079209 scopus 로고
    • Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study
    • Cardona F, Rosati E. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study. Am J Med Genet 1995;57:142-143.
    • (1995) Am J Med Genet , vol.57 , pp. 142-143
    • Cardona, F.1    Rosati, E.2
  • 10
    • 0023892434 scopus 로고    scopus 로고
    • Kufs disease: A critical reappraisal
    • Berkovic SF, Carpenter S, Andermann F, et al. Kufs disease: a critical reappraisal. Brain 1998;111:27-62.
    • (1998) Brain , vol.111 , pp. 27-62
    • Berkovic, S.F.1    Carpenter, S.2    Andermann, F.3
  • 11
    • 0028879016 scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Goebel HH. The neuronal ceroid-lipofuscinoses. J Child Neurol 1995;10:424-437.
    • (1995) J Child Neurol , vol.10 , pp. 424-437
    • Goebel, H.H.1
  • 12
    • 0027301122 scopus 로고
    • Adult type of neuronal ceroid-lipofuscinosis
    • Martin JJ. Adult type of neuronal ceroid-lipofuscinosis. J Inher Metab Dis 1993;16:237-240
    • (1993) J Inher Metab Dis , vol.16 , pp. 237-240
    • Martin, J.J.1
  • 13
    • 0041431612 scopus 로고    scopus 로고
    • Genetic analysis of adult onset neuronal ceroid liposfuscinosis (Kufs disease)
    • William RE, Verloes A, Munroe PB, et al. Genetic analysis of adult onset neuronal ceroid liposfuscinosis (Kufs disease). Eur J Paed Neurol 1998;2:2 (A11).
    • (1998) Eur J Paed Neurol , vol.2 , pp. 2
    • William, R.E.1    Verloes, A.2    Munroe, P.B.3
  • 14
    • 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
  • 15
    • 0015815856 scopus 로고
    • Infantile type so-called neuronal ceroid lipofuscinosis: Histological and electron microscopic studies
    • Berl
    • Haltia M, Rapola J, Santavuori P. Infantile type so-called neuronal ceroid lipofuscinosis: histological and electron microscopic studies. Acta Neuropathol (Berl) 1973;26:157-170.
    • (1973) Acta Neuropathol , vol.26 , pp. 157-170
    • Haltia, M.1    Rapola, J.2    Santavuori, P.3
  • 16
    • 0014351359 scopus 로고
    • Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism
    • Hagberg B, Sourander P, Svennerholm L. Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediatr Scand 1968;57:495-499.
    • (1968) Acta Paediatr Scand , vol.57 , pp. 495-499
    • Hagberg, B.1    Sourander, P.2    Svennerholm, L.3
  • 17
    • 0015547256 scopus 로고
    • A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits
    • Carpenter S, Karpati G, Andermann F. A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. J Neurol Sci 1973;18:67-87.
    • (1973) J Neurol Sci , vol.18 , pp. 67-87
    • Carpenter, S.1    Karpati, G.2    Andermann, F.3
  • 18
    • 0026524217 scopus 로고
    • Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations
    • Wisniewski KE, Kida E, Patxot OF, Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet 1992;42:525-532.
    • (1992) Am J Med Genet , vol.42 , pp. 525-532
    • Wisniewski, K.E.1    Kida, E.2    Patxot, O.F.3    Connell, F.4
  • 21
    • 0017887981 scopus 로고
    • Early-juvenile Batten's disease - A recognizable subgroup distinct from other forms of Batten's disease. Analysis of five patients
    • Lake BD, Cavanagh NP. Early-juvenile Batten's disease - a recognizable subgroup distinct from other forms of Batten's disease. Analysis of five patients. J Neurol Sci 1978;36:265-271.
    • (1978) J Neurol Sci , vol.36 , pp. 265-271
    • Lake, B.D.1    Cavanagh, N.P.2
  • 22
    • 0024193388 scopus 로고
    • Reconsideration of the classification of the neuronal ceroid-lipofuscinoses
    • Dyken P. Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. Am J Med Genet [Suppl] 1988;5:69-84.
    • (1988) Am J Med Genet , vol.5 , Issue.SUPPL. , pp. 69-84
    • Dyken, P.1
  • 23
    • 0029075391 scopus 로고
    • Classification of the neuronal ceroid-lipofuscinoses: An expantion of the atypical forms
    • Dyken P, Wisniewski K. Classification of the neuronal ceroid-lipofuscinoses: an expantion of the atypical forms. Am J Med Genet 1995;57:150-154.
    • (1995) Am J Med Genet , vol.57 , pp. 150-154
    • Dyken, P.1    Wisniewski, K.2
  • 24
    • 0027315230 scopus 로고
    • Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLNI) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis
    • Hellsten E, Vesa J, Speer MC, et al. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLNI) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 1993;16:720-725.
    • (1993) Genomics , vol.16 , pp. 720-725
    • Hellsten, E.1    Vesa, J.2    Speer, M.C.3
  • 25
    • 0027288395 scopus 로고
    • Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16
    • Mitchson HM, Williams RE, McKay TR, et al. Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16. J Inher Metab Dis 1993;16:339-341.
    • (1993) J Inher Metab Dis , vol.16 , pp. 339-341
    • Mitchson, H.M.1    Williams, R.E.2    McKay, T.R.3
  • 26
    • 0029450268 scopus 로고
    • Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)
    • Sharp JD, Wheeler RB, Savukoski M, et al. Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2) (Letter). Eur J Hum Genet 1995;3:326-328.
    • (1995) Eur J Hum Genet , vol.3 , pp. 326-328
    • Sharp, J.D.1    Wheeler, R.B.2    Savukoski, M.3
  • 27
    • 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
  • 28
    • 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
  • 29
    • 0033009324 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases
    • Bennet MJ, Hofmann SL. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. J Inher Metab Dis 1999;22:535-544.
    • (1999) J Inher Metab Dis , vol.22 , pp. 535-544
    • Bennet, M.J.1    Hofmann, S.L.2
  • 30
    • 8544232751 scopus 로고    scopus 로고
    • Neurophysiological findings in neuronal ceroid lipofuscinoses
    • Sainio K. Neurophysiological findings in neuronal ceroid lipofuscinoses. Neuropediatrics 1997;28:70.
    • (1997) Neuropediatrics , vol.28 , pp. 70
    • Sainio, K.1
  • 31
    • 0003085579 scopus 로고    scopus 로고
    • Late infantile progressive genetic encephalopathies (metabolic encephalopathies of the second year of life)
    • New York; McGraw-Hill.
    • Lyon G, Adams RD, Kolodny EH (eds). Late infantile progressive genetic encephalopathies (metabolic encephalopathies of the second year of life). Neurology of hereditary metabolic diseases in children. 2Ed. New York; McGraw-Hill. 1996:146-150.
    • (1996) Neurology of Hereditary Metabolic Diseases in Children. 2Ed. , pp. 146-150
    • Lyon, G.1    Adams, R.D.2    Kolodny, E.H.3
  • 33
    • 0029070732 scopus 로고
    • Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients
    • Narducci 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
    • Narducci, N.1    Verga, M.L.2    Binelli, S.3
  • 34
    • 0027302561 scopus 로고
    • Protracted juvenile neuronal ceroid-lipofuscinosis
    • Goebel HH. Protracted juvenile neuronal ceroid-lipofuscinosis. J Inher Met Dis 1993;16:233-236.
    • (1993) J Inher Met Dis , vol.16 , pp. 233-236
    • Goebel, H.H.1
  • 35
    • 0042934749 scopus 로고    scopus 로고
    • The importance of adequate light and electron microscopical observations in defining the type of NCL
    • Lake BD. The importance of adequate light and electron microscopical observations in defining the type of NCL. Eur J Paed Neurol 1998;2:2 (A14).
    • (1998) Eur J Paed Neurol , vol.2 , pp. 2
    • Lake, B.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.