메뉴 건너뛰기




Volumn 10, Issue 5, 1997, Pages 306-320

Niemann-Pick disease type C: Neuropathology revisited

Author keywords

Neurofibrillary tangles; Neuronal storage disease Cholesterol transport; Tau

Indexed keywords

LOW DENSITY LIPOPROTEIN; TAU PROTEIN;

EID: 0031543816     PISSN: 10195815     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (53)
  • 1
    • 0000815355 scopus 로고
    • Niemann-Pick disease type C: A cellular cholesterol lipidosis
    • Scriver CK, Beaudet AL, Sly WS, Valle D (eds): New York , McGraw-Hill
    • Pentchev PG, Vanier MT, Suzuki K, Patterson MC: Niemann-Pick disease type C: A cellular cholesterol lipidosis; in Scriver CK, Beaudet AL, Sly WS, Valle D (eds): Metabolic and Molecular Basis of Inherited Disease, ed 7. New York , McGraw-Hill, 1995, pp 2625-2639.
    • (1995) Metabolic and Molecular Basis of Inherited Disease, Ed 7 , pp. 2625-2639
    • Pentchev, P.G.1    Vanier, M.T.2    Suzuki, K.3    Patterson, M.C.4
  • 2
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
    • Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED: Genetic heterogeneity in Niemann-Pick C Disease: A study using somatic cell hybridization and linkage analysis. Am J Hum Genet 1996;58:118-125.
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.3    Pentchev, P.4    Carstea, E.D.5
  • 6
    • 0000842144 scopus 로고    scopus 로고
    • Niemann-Pick disease
    • Moser HW (ed): Neurodystrophies and neurolipidoses. Amsterdam, Elsevier Science
    • Vanier MT, Suzuki K: Niemann-Pick disease; in Moser HW (ed): Neurodystrophies and Neurolipidoses. Handbook of Clinical Neurology. Amsterdam, Elsevier Science, 1996, vol 66, pp 133-162.
    • (1996) Handbook of Clinical Neurology , vol.66 , pp. 133-162
    • Vanier, M.T.1    Suzuki, K.2
  • 8
    • 0025319480 scopus 로고
    • Fetal ascites: An unusual presentation of Niemann Pick disease type C
    • Manning DJ, Price WI, Pearse RG: Fetal ascites: An unusual presentation of Niemann Pick disease type C. Arch Dis Child 1990;65:335-336.
    • (1990) Arch Dis Child , vol.65 , pp. 335-336
    • Manning, D.J.1    Price, W.I.2    Pearse, R.G.3
  • 9
    • 0020528875 scopus 로고
    • Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C
    • Elleder M, Jirasok A, Vik J: Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C. Virchows Arch A Pathol Anat 1983;401: 35-43.
    • (1983) Virchows Arch A Pathol Anat , vol.401 , pp. 35-43
    • Elleder, M.1    Jirasok, A.2    Vik, J.3
  • 10
    • 0026679590 scopus 로고
    • Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly
    • Hulette CM, Earl NL, Anthony DC, Crain BJ: Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol 1992;11:293-297.
    • (1992) Clin Neuropathol , vol.11 , pp. 293-297
    • Hulette, C.M.1    Earl, N.L.2    Anthony, D.C.3    Crain, B.J.4
  • 11
    • 0020463604 scopus 로고
    • Adult dystonic lipidoses: Clinical, histologic and biochemical findings of a neurovisceral storage disease
    • Longstreth WT, Daven JR, Farrell DF, Bolen JW, Bird TD: Adult dystonic lipidoses: Clinical, histologic and biochemical findings of a neurovisceral storage disease. Neurology 1882;32:1295-1299.
    • (1882) Neurology , vol.32 , pp. 1295-1299
    • Longstreth, W.T.1    Daven, J.R.2    Farrell, D.F.3    Bolen, J.W.4    Bird, T.D.5
  • 12
  • 13
    • 0019399653 scopus 로고
    • Neuropathology of various types of Niemann-Pick disease
    • Elleder M, Jirasek A: Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol (Berl) 1981;(suppl)VII:201-203.
    • (1981) Acta Neuropathol (Berl) , vol.7 , Issue.SUPPL. , pp. 201-203
    • Elleder, M.1    Jirasek, A.2
  • 15
    • 0002414430 scopus 로고
    • Pathology of Niemann-Pick type C: Studies of murine mutant
    • Ikuta F (ed): Neuropathology in Brain Research. Amsterdam, Elsevier
    • Higashi Y, Murayama S, Pentchev PG, Suzuki K: Pathology of Niemann-Pick type C: Studies of murine mutant; in Ikuta F (ed): Neuropathology in Brain Research. Amsterdam, Elsevier, 1991; Int Congr Ser 962, pp 85-102.
    • (1991) Int Congr Ser , vol.962 , pp. 85-102
    • Higashi, Y.1    Murayama, S.2    Pentchev, P.G.3    Suzuki, K.4
  • 16
    • 0023940276 scopus 로고
    • Cerebellar involvement in murine sphingomyelinosis: A new model of Niemann-Pick disease
    • Tanaka J, Nakamura H, Miyawaki S: Cerebellar involvement in murine sphingomyelinosis: A new model of Niemann-Pick disease. J Neuropath Exp Neurol 1988;47:291-300.
    • (1988) J Neuropath Exp Neurol , vol.47 , pp. 291-300
    • Tanaka, J.1    Nakamura, H.2    Miyawaki, S.3
  • 20
    • 0028929548 scopus 로고
    • Neurofibrillary tangles in Niemann-Pick disease type C
    • Love S, Bridges LR, Case CP: Neurofibrillary tangles in Niemann-Pick disease type C. Brain 1995; 118:119-129.
    • (1995) Brain , vol.118 , pp. 119-129
    • Love, S.1    Bridges, L.R.2    Case, C.P.3
  • 24
    • 0026409455 scopus 로고
    • Clinical aspects of Niemann-Pick type C disease in the adult
    • Turpin JC, Masson M, Baumann N: Clinical aspects of Niemann-Pick type C disease in the adult. Dev Neurosci 1991;13:304-306.
    • (1991) Dev Neurosci , vol.13 , pp. 304-306
    • Turpin, J.C.1    Masson, M.2    Baumann, N.3
  • 25
    • 0018141763 scopus 로고
    • Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family
    • Harzer K, Schlote W, Peiffer J, Benz HU, Anzil AP: Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family. Acta Neuropathol (Berl) 1978;43: 97-104.
    • (1978) Acta Neuropathol (Berl) , vol.43 , pp. 97-104
    • Harzer, K.1    Schlote, W.2    Peiffer, J.3    Benz, H.U.4    Anzil, A.P.5
  • 26
    • 0027264799 scopus 로고
    • Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen
    • Dumontel C, Girod C, Dijoud F, Dumez Y, Vanier MT: Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen. Virchows Archiv A Pathol Anat 1993;442: 253-259.
    • (1993) Virchows Archiv A Pathol Anat , vol.442 , pp. 253-259
    • Dumontel, C.1    Girod, C.2    Dijoud, F.3    Dumez, Y.4    Vanier, M.T.5
  • 28
    • 0024825262 scopus 로고
    • Case 5: Progressive neonatal liver failure due to type C Niemann-Pick disease
    • Rutiedge JC: Case 5: Progressive neonatal liver failure due to type C Niemann-Pick disease. Pediatr Pathol 1989;9:779-784.
    • (1989) Pediatr Pathol , vol.9 , pp. 779-784
    • Rutiedge, J.C.1
  • 31
    • 0021017225 scopus 로고
    • Niemann-Pick disease type C with enhanced glycolipid storage: Report on further case of so-called lactosylceramidosis
    • Elleder M, Jirasek A, Smid F, Ledvinova J, Besley GTN, Stopekova M: Niemann-Pick disease type C with enhanced glycolipid storage: Report on further case of so-called lactosylceramidosis. Virchows Arch A Pathol Anat 1984;402:307-317.
    • (1984) Virchows Arch A Pathol Anat , vol.402 , pp. 307-317
    • Elleder, M.1    Jirasek, A.2    Smid, F.3    Ledvinova, J.4    Besley, G.T.N.5    Stopekova, M.6
  • 32
    • 0015609661 scopus 로고
    • Niemann-Pick disease type C: Case report with ultrastructural findings
    • Anzil AP, Blinzinger K, Mehraein P, Dozic S: Niemann-Pick Disease type C: Case report with ultrastructural findings. Neuropädiatrie 1973;4: 207-225.
    • (1973) Neuropädiatrie , vol.4 , pp. 207-225
    • Anzil, A.P.1    Blinzinger, K.2    Mehraein, P.3    Dozic, S.4
  • 33
    • 70449185285 scopus 로고
    • Niemann-Pick's disease: A review of eighteen patients
    • Crocker AC, Farber S: Niemann-Pick's disease: A review of eighteen patients. Medicine (Baltimore) 1958;37:1-96.
    • (1958) Medicine (Baltimore) , vol.37 , pp. 1-96
    • Crocker, A.C.1    Farber, S.2
  • 34
    • 0019472463 scopus 로고
    • Morbus niemann-pick typ C (subakute neuroviscerale lipidose). Zur frage der veränderten sphingomyelinase-aktivität im gehirn
    • Harzer K, Peiffer J: Morbus Niemann-Pick Typ C (subakute neuroviscerale lipidose). Zur Frage der veränderten Sphingomyelinase-Aktivität im Gehirn. Arch Psychiatr Nervenkr 1981;230: 71-79.
    • (1981) Arch Psychiatr Nervenkr , vol.230 , pp. 71-79
    • Harzer, K.1    Peiffer, J.2
  • 37
    • 0014480882 scopus 로고
    • Niemann-Pick disease. Morphological and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C)
    • Philippart M, Martin L, Martin JJ, Menkes JH: Niemann-Pick disease. Morphological and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch Neurol 1969;20:227-238.
    • (1969) Arch Neurol , vol.20 , pp. 227-238
    • Philippart, M.1    Martin, L.2    Martin, J.J.3    Menkes, J.H.4
  • 39
    • 0014360278 scopus 로고
    • Dystonic juvenile idiocy without amaurosis: A new syndrome, light and electron microscopic observations of cerebrum
    • Elfenbein IB: Dystonic juvenile idiocy without amaurosis: A new syndrome, light and electron microscopic observations of cerebrum. Johns Hopkins Med J 1968;123:205-221.
    • (1968) Johns Hopkins Med J , vol.123 , pp. 205-221
    • Elfenbein, I.B.1
  • 40
    • 0021711534 scopus 로고
    • Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)
    • Martin JJ, Löwenthal A, Ceuterick C, Vanier MT: Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). J Neurol Sci 1984;66:33-45.
    • (1984) J Neurol Sci , vol.66 , pp. 33-45
    • Martin, J.J.1    Löwenthal, A.2    Ceuterick, C.3    Vanier, M.T.4
  • 41
    • 0015548903 scopus 로고
    • A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease: A report of nine patients
    • Neville BGR, Lake BD, Stephens R, Sanders MD: A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease: A report of nine patients. Brain 1973:96:97-120.
    • (1973) Brain , vol.96 , pp. 97-120
    • Neville, B.G.R.1    Lake, B.D.2    Stephens, R.3    Sanders, M.D.4
  • 42
    • 0018176170 scopus 로고
    • Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)
    • Horoupian DS, Yang SS: Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis). Ann Neurol 1978;4:404-411.
    • (1978) Ann Neurol , vol.4 , pp. 404-411
    • Horoupian, D.S.1    Yang, S.S.2
  • 44
    • 0014897579 scopus 로고
    • Electron microscopy of storage cytosomes in Kuff's disease
    • Chou SM, Thompson HG: Electron microscopy of storage cytosomes in Kuff's disease. Arch Neurol 1970;23:489-501.
    • (1970) Arch Neurol , vol.23 , pp. 489-501
    • Chou, S.M.1    Thompson, H.G.2
  • 45
    • 0015416476 scopus 로고
    • Generalized lipofuscinosis (generalized Kuff's disease)
    • Kornfeld M: Generalized lipofuscinosis (generalized Kuff's disease). J Neuropathol Exp Neurol 1972;31:668-681.
    • (1972) J Neuropathol Exp Neurol , vol.31 , pp. 668-681
    • Kornfeld, M.1
  • 46
    • 0001218381 scopus 로고    scopus 로고
    • Adult onset Niemann-Pick disease type C - Report of two cases (abstract)
    • Couce ME, Parisi JE, Schochet SS: Adult onset Niemann-Pick disease type C - Report of two cases (abstract). J Neuropathol Exp Neurol 1997;56:622.
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 622
    • Couce, M.E.1    Parisi, J.E.2    Schochet, S.S.3
  • 47
    • 0027980638 scopus 로고
    • Non-Alzheimer neurofibrillary tangles show β-amyloid-like immunoreactivity
    • Sherriff FE, Bridges LR, De Souza DSM: Non-Alzheimer neurofibrillary tangles show β-amyloid-like immunoreactivity. Neuroreport 1994;5: 1897-1900.
    • (1994) Neuroreport , vol.5 , pp. 1897-1900
    • Sherriff, F.E.1    Bridges, L.R.2    De Souza, D.S.M.3
  • 48
    • 0003107254 scopus 로고
    • Progressive supranuclear palsy
    • Calne DB (ed): Philadelphia, Saunders
    • Cardoso F, Jankovic J: Progressive supranuclear palsy; in Calne DB (ed): Neurodegenerative Disease. Philadelphia, Saunders, 1994, pp 775-776.
    • (1994) Neurodegenerative Disease , pp. 775-776
    • Cardoso, F.1    Jankovic, J.2
  • 49
    • 0025832182 scopus 로고
    • Neuropathological observations in a case of autism presenting with self-injury behavior
    • Hot PR, Knabe R, Bovier P, Bouras C: Neuropathological observations in a case of autism presenting with self-injury behavior. Acta Neuropathol (Berl) 1991;82:321-326.
    • (1991) Acta Neuropathol (Berl) , vol.82 , pp. 321-326
    • Hot, P.R.1    Knabe, R.2    Bovier, P.3    Bouras, C.4
  • 50
    • 0025736188 scopus 로고
    • Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy
    • Kiuchi A, Otsuka N, Namba Y, Nakano I, Tomonaga M: Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy. Acra Neuropathol (Berl) 1991;82:1-5.
    • (1991) Acra Neuropathol (Berl) , vol.82 , pp. 1-5
    • Kiuchi, A.1    Otsuka, N.2    Namba, Y.3    Nakano, I.4    Tomonaga, M.5
  • 51
    • 0018372161 scopus 로고
    • Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia
    • Wisniewski K, Jervis GA, Moretz RC, Wisniewski HM: Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia. Ann Neurol 1979;5:288-294.
    • (1979) Ann Neurol , vol.5 , pp. 288-294
    • Wisniewski, K.1    Jervis, G.A.2    Moretz, R.C.3    Wisniewski, H.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.