메뉴 건너뛰기




Volumn 78, Issue 2, 2007, Pages 139-144

Adult-onset neuronal ceroid lipofuscinosis;Neuronale zeroidlipofuszinosen des erwachsenenalters

Author keywords

Dementia; Kufs' disease; Neuronal ceroid lipofuscinosis; Seizures; Visual loss

Indexed keywords

CLN1 PROTEIN; CLN4 PROTEIN; GENE PRODUCT; PALMITOYL PROTEIN THIOESTERASE; UNCLASSIFIED DRUG;

EID: 33847184921     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00115-006-2222-8     Document Type: Review
Times cited : (4)

References (29)
  • 1
    • 0023892434 scopus 로고
    • Kufs' disease: A critical reappraisal
    • Berkovic SF, Carpenter S, Andermann F et al. (1988) Kufs' disease: a critical reappraisal. Brain 111: 27-62
    • (1988) Brain , vol.111 , pp. 27-62
    • Berkovic, S.F.1    Carpenter, S.2    Andermann, F.3
  • 3
    • 71749101489 scopus 로고    scopus 로고
    • An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease
    • Chattopadhyay S, Ito M, Cooper JD et al. (2002) An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet 11: 1421-1431
    • (2002) Hum Mol Genet , vol.11 , pp. 1421-1431
    • Chattopadhyay, S.1    Ito, M.2    Cooper, J.D.3
  • 4
    • 0014897579 scopus 로고
    • Electron microscopy of storage cytosomes in Kufs' disease
    • Chou SM, Thompson HG (1970) Electron microscopy of storage cytosomes in Kufs' disease. Arch Neurol 23: 489-501
    • (1970) Arch Neurol , vol.23 , pp. 489-501
    • Chou, S.M.1    Thompson, H.G.2
  • 5
    • 0018636209 scopus 로고
    • Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other
    • Dom R, Brucher JM, Ceuterick C et al. (1979) Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other. Acta Neuropath 45: 67-72
    • (1979) Acta Neuropath , vol.45 , pp. 67-72
    • Dom, R.1    Brucher, J.M.2    Ceuterick, C.3
  • 6
    • 0018864101 scopus 로고
    • A Golgi and ultrastructural study of a dominant form of Kufs' disease
    • Ferrer I, Arbizu T, Pena J, Serra JP (1980) A Golgi and ultrastructural study of a dominant form of Kufs' disease. J Neurol 222: 183-190
    • (1980) J Neurol , vol.222 , pp. 183-190
    • Ferrer, I.1    Arbizu, T.2    Pena, J.3    Serra, J.P.4
  • 7
    • 0344915205 scopus 로고
    • Central nervous system lipidosis in an adult with atrophy of the cerebellar granular layer: A case report
    • Fine DI, Barron KD, Hirano A (1960) Central nervous system lipidosis in an adult with atrophy of the cerebellar granular layer: a case report. J Neurol 19: 355-369
    • (1960) J Neurol , vol.19 , pp. 355-369
    • Fine, D.I.1    Barron, K.D.2    Hirano, A.3
  • 8
    • 0036359906 scopus 로고    scopus 로고
    • Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses
    • Gardiner RM (2003) Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. Adv Neurol 89: 211-215
    • (2003) Adv Neurol , vol.89 , pp. 211-215
    • Gardiner, R.M.1
  • 10
    • 2542482500 scopus 로고    scopus 로고
    • Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase a
    • Heine C, Koch B, Storch S et al. (2004) Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase a. J Biol Chem 279: 22347-22352
    • (2004) J Biol Chem , vol.279 , pp. 22347-22352
    • Heine, C.1    Koch, B.2    Storch, S.3
  • 11
    • 0035990987 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)
    • Hofmann SL, Atashband A, Cho SK et al. (2002) Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). Curr Mol Med 2: 423-437
    • (2002) Curr Mol Med , vol.2 , pp. 423-437
    • Hofmann, S.L.1    Atashband, A.2    Cho, S.K.3
  • 12
    • 0000665299 scopus 로고    scopus 로고
    • The neuronal ceroid lipofuscinosis
    • Scriver, CR, Beaudet AL, Sly WS, Valle D eds, 8th ed. McGraw-Hill, New York, pp
    • Hofmann SL, Peltonen L (2001) The neuronal ceroid lipofuscinosis. In: Scriver, CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease, vol. III, 8th ed. McGraw-Hill, New York, pp. 3877-3894
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , vol.3 , pp. 3877-3894
    • Hofmann, S.L.1    Peltonen, L.2
  • 14
    • 51849173016 scopus 로고
    • Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen
    • Kufs H (1925) Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen. Z Ges Neurol Psychiat 95: 169-188
    • (1925) Z Ges Neurol Psychiat , vol.95 , pp. 169-188
    • Kufs, H.1
  • 15
    • 0034916520 scopus 로고    scopus 로고
    • Northern epilepsy syndrome (NES, CLN8)-MRI and electrophysiological studies
    • Lauronen L, Sanatvuori P, Hirvasniemi A et al. (2001) Northern epilepsy syndrome (NES, CLN8)-MRI and electrophysiological studies. Europ J Paediatr Neurol 5 [Suppl A]: 167-173
    • (2001) Europ J Paediatr Neurol , vol.5 , Issue.SUPPL. A , pp. 167-173
    • Lauronen, L.1    Sanatvuori, P.2    Hirvasniemi, A.3
  • 16
    • 33847237931 scopus 로고    scopus 로고
    • Martin JJ, Gottlob I, Goebel HH et al. (1999) Adult NCL. In: HH, Mole SE, Lake BD The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam: 77-90
    • Martin JJ, Gottlob I, Goebel HH et al. (1999) Adult NCL. In: HH, Mole SE, Lake BD The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam: 77-90
  • 17
    • 0029070732 scopus 로고
    • Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients
    • Nadocci N, Verga ML, Binelli S et al. (1995) Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. Am J Med Genet 57: 137-141
    • (1995) Am J Med Genet , vol.57 , pp. 137-141
    • Nadocci, N.1    Verga, M.L.2    Binelli, S.3
  • 18
    • 0242583977 scopus 로고    scopus 로고
    • Autosomal dominant adult neuronal ceroid lipofuscinosis: A novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
    • Nijssen PC, Ceuterick C, van Diggelen OP et al. (2003) Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol 13: 574-581
    • (2003) Brain Pathol , vol.13 , pp. 574-581
    • Nijssen, P.C.1    Ceuterick, C.2    van Diggelen, O.P.3
  • 19
    • 0036589886 scopus 로고    scopus 로고
    • Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
    • Nijssen PC, Brusse E, Leyten AC et al. (2002) Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord 17: 482-487
    • (2002) Mov Disord , vol.17 , pp. 482-487
    • Nijssen, P.C.1    Brusse, E.2    Leyten, A.C.3
  • 20
    • 11144353883 scopus 로고    scopus 로고
    • Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
    • Ranta S, Topcu M, Tegelberg S et al. (2004) Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 23: 300-305
    • (2004) Hum Mutat , vol.23 , pp. 300-305
    • Ranta, S.1    Topcu, M.2    Tegelberg, S.3
  • 21
    • 0033933260 scopus 로고    scopus 로고
    • Familial Kufs' disease presenting as a progressive myoclonic epilepsy
    • Sadzot B, Reznik M, Arrese-Estrada JE, Franck G (2000) Familial Kufs' disease presenting as a progressive myoclonic epilepsy. J Neurol 247: 447-454
    • (2000) J Neurol , vol.247 , pp. 447-454
    • Sadzot, B.1    Reznik, M.2    Arrese-Estrada, J.E.3    Franck, G.4
  • 22
    • 4444287867 scopus 로고    scopus 로고
    • Impaired cell adhesion and apoptosis in a novel CLN9 or Batten disease variant
    • Schulz A, Dhar S, Rylova S et al. (2004) Impaired cell adhesion and apoptosis in a novel CLN9 or Batten disease variant. Ann Neurol 56: 342-350
    • (2004) Ann Neurol , vol.56 , pp. 342-350
    • Schulz, A.1    Dhar, S.2    Rylova, S.3
  • 23
    • 33745079623 scopus 로고    scopus 로고
    • Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    • Siintola E, Partanen S, Strömme P et al. (2006). Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129: 1438-1445
    • (2006) Brain , vol.129 , pp. 1438-1445
    • Siintola, E.1    Partanen, S.2    Strömme, P.3
  • 24
    • 2342611172 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinosis: A clinicopathological study
    • Sinha S, Satishchandra P, Santosh V et al. (2004) Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure 13: 235-240
    • (2004) Seizure , vol.13 , pp. 235-240
    • Sinha, S.1    Satishchandra, P.2    Santosh, V.3
  • 25
    • 0036837655 scopus 로고    scopus 로고
    • Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations
    • Steinfeld R, Heim P, Von Gregory H et al. (2002) Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112: 347-354
    • (2002) Am J Med Genet , vol.112 , pp. 347-354
    • Steinfeld, R.1    Heim, P.2    Von Gregory, H.3
  • 26
    • 0034903333 scopus 로고    scopus 로고
    • Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency. First adult-onset patients of a childhood disease
    • Van Diggelen OP, Thobois S, Tilikete C et al. (2001) Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency. First adult-onset patients of a childhood disease. Ann Neurol 50: 269-272
    • (2001) Ann Neurol , vol.50 , pp. 269-272
    • Van Diggelen, O.P.1    Thobois, S.2    Tilikete, C.3
  • 27
    • 0034925202 scopus 로고    scopus 로고
    • Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)
    • Van Diggelen OP, Keulemans JL, Kleijer WJ et al. (2001) Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Europ J Paediatr Neurol 5 [Suppl A]: 189-192
    • (2001) Europ J Paediatr Neurol , vol.5 , Issue.SUPPL. A , pp. 189-192
    • Van Diggelen, O.P.1    Keulemans, J.L.2    Kleijer, W.J.3
  • 28
    • 0036326358 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinoses are connected at molecular level: Interaction of CLN5 protein with CLN 2 and CLN3
    • Vesa J, Chin MH, Oelgeschlager K et al. (2002) Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN 2 and CLN3. Mol Biol Cell 13: 2410-2420
    • (2002) Mol Biol Cell , vol.13 , pp. 2410-2420
    • Vesa, J.1    Chin, M.H.2    Oelgeschlager, K.3
  • 29
    • 0032775827 scopus 로고    scopus 로고
    • A new locus for variant late infantile neuronal ceroid lipofuscinosis- CLN7
    • Wheeler RB, Sharp JD, Mitchell WA et al. (1999) A new locus for variant late infantile neuronal ceroid lipofuscinosis- CLN7. Mol Genet Metab 66: 337-338
    • (1999) Mol Genet Metab , vol.66 , pp. 337-338
    • Wheeler, R.B.1    Sharp, J.D.2    Mitchell, W.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.