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Volumn 20, Issue 1, 2005, Pages 100-103

Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Author keywords

Beta glucocerebrosidase; Genetic risk factor; Heterozygote; Homozygote; Jewish ethnicity; N370S

Indexed keywords

BETA GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDASE; UNCLASSIFIED DRUG;

EID: 14044262300     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20320     Document Type: Article
Times cited : (78)

References (29)
  • 1
    • 0036901168 scopus 로고    scopus 로고
    • Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease
    • Marks DL, Pagano RE. Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease. Trends Cell Biol 2002;12: 605-613.
    • (2002) Trends Cell Biol. , vol.12 , pp. 605-613
    • Marks, D.L.1    Pagano, R.E.2
  • 2
    • 0034626360 scopus 로고    scopus 로고
    • The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
    • Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-2843.
    • (2000) Arch. Intern. Med. , vol.160 , pp. 2835-2843
    • Charrow, J.1    Andersson, H.C.2    Kaplan, P.3
  • 3
    • 0007767637 scopus 로고
    • Genetics of sphingolipidosis
    • Aranson S, Volk B, editors. New York: Academic Press
    • Knudsen A, Kaplan W. Genetics of sphingolipidosis. In: Aranson S, Volk B, editors. Cerebral sphingolipidosis. New York: Academic Press; 1962. p 395-411.
    • (1962) Cerebral Sphingolipidosis , pp. 395-411
    • Knudsen, A.1    Kaplan, W.2
  • 4
    • 0015876010 scopus 로고
    • Gaucher's disease: Neurologic disorder in adult siblings
    • Miller JD, McCluer R, Kanfer JN. Gaucher's disease: neurologic disorder in adult siblings. Ann Intern Med 1973;78:883-887.
    • (1973) Ann. Intern. Med. , vol.78 , pp. 883-887
    • Miller, J.D.1    McCluer, R.2    Kanfer, J.N.3
  • 5
    • 0016549343 scopus 로고
    • Progressive myoclonic epilepsy due to Gaucher's disease in an adult
    • King JO. Progressive myoclonic epilepsy due to Gaucher's disease in an adult. J Neurol Neurosurg Psychiatry 1975;38:849-854.
    • (1975) J. Neurol. Neurosurg. Psychiatry , vol.38 , pp. 849-854
    • King, J.O.1
  • 6
    • 0018341841 scopus 로고
    • Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease
    • Neil JF, Glew RH, Peters SP. Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. Arch Neurol 1979;36:95-99.
    • (1979) Arch. Neurol. , vol.36 , pp. 95-99
    • Neil, J.F.1    Glew, R.H.2    Peters, S.P.3
  • 8
    • 0029773625 scopus 로고    scopus 로고
    • Occurrence of Parkinson's syndrome in type I Gaucher disease
    • Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. Q J Med 1996;89:691-694.
    • (1996) Q. J. Med. , vol.89 , pp. 691-694
    • Neudorfer, O.1    Giladi, N.2    Elstein, D.3
  • 9
    • 0034848419 scopus 로고    scopus 로고
    • Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
    • Tayebi N, Callahan M, Madike V, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001;73:313-321.
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 313-321
    • Tayebi, N.1    Callahan, M.2    Madike, V.3
  • 11
    • 0037369244 scopus 로고    scopus 로고
    • Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup
    • Park JK, Orvisky E, Tayebi N, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003;53:387-395.
    • (2003) Pediatr. Res. , vol.53 , pp. 387-395
    • Park, J.K.1    Orvisky, E.2    Tayebi, N.3
  • 12
    • 0031968178 scopus 로고    scopus 로고
    • Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
    • Cormand B, Grinberg D, Gort L, et al. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Hum Mutat 1998;11:295-305.
    • (1998) Hum. Mutat. , vol.11 , pp. 295-305
    • Cormand, B.1    Grinberg, D.2    Gort, L.3
  • 13
    • 0032996131 scopus 로고    scopus 로고
    • Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
    • Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999;61:216-217.
    • (1999) Am. J. Hematol. , vol.61 , pp. 216-217
    • Machaczka, M.1    Rucinska, M.2    Skotnicki, A.B.3    Jurczak, W.4
  • 14
    • 12444296116 scopus 로고    scopus 로고
    • Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
    • Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003;79:104-109.
    • (2003) Mol. Genet. Metab. , vol.79 , pp. 104-109
    • Tayebi, N.1    Walker, J.2    Stubblefield, B.3
  • 15
    • 0038460778 scopus 로고    scopus 로고
    • Gaucher disease associated with parkinsonism: Four further case reports
    • Varkonyi J, Rosenbaum H, Baumann N, et al. Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet 2003;116A:348-351.
    • (2003) Am. J. Med. Genet. , vol.116 A , pp. 348-351
    • Varkonyi, J.1    Rosenbaum, H.2    Baumann, N.3
  • 17
    • 14044251869 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in subjects with Parkinson's disease
    • Lwin AA, Orvisky E, Eblan M, Sidransky E. Glucocerebrosidase mutations in subjects with Parkinson's disease. Am J Hum Genet 2003;S73:2115.
    • (2003) Am. J. Hum. Genet. , vol.S73 , pp. 2115
    • Lwin, A.A.1    Orvisky, E.2    Eblan, M.3    Sidransky, E.4
  • 18
    • 0346059412 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in subjects with parkinsonism
    • Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004; 81:70-73.
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 70-73
    • Lwin, A.1    Orvisky, E.2    Goker-Alpan, O.3
  • 19
    • 0035514049 scopus 로고    scopus 로고
    • A genetic profile of contemporary Jewish populations
    • Ostrer H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891-898.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 891-898
    • Ostrer, H.1
  • 20
    • 0033951675 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
    • Stone DL, Tayebi N, Orvisky E, et al. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000;15:181-188.
    • (2000) Hum. Mutat. , vol.15 , pp. 181-188
    • Stone, D.L.1    Tayebi, N.2    Orvisky, E.3
  • 21
    • 0141535355 scopus 로고    scopus 로고
    • Familial aggregation of early-and late-onset Parkinson's disease
    • Marder K, Levy G, Louis ED, et al. Familial aggregation of early-and late-onset Parkinson's disease. Ann Neurol 2003;54:507-513.
    • (2003) Ann. Neurol. , vol.54 , pp. 507-513
    • Marder, K.1    Levy, G.2    Louis, E.D.3
  • 22
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • Hughes AJ Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
    • (1992) J. Neurol. Neurosurg. Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 23
    • 0032507032 scopus 로고    scopus 로고
    • The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics
    • Tang MX, Stern Y, Marder K, et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA 1998;279:751-755.
    • (1998) JAMA , vol.279 , pp. 751-755
    • Tang, M.X.1    Stern, Y.2    Marder, K.3
  • 24
    • 0003993766 scopus 로고
    • Recent developments in Parkinson's disease
    • Florham Park, NJ: Macmillan Healthcare Information
    • Fahn S, Marsden CD, Calne D. Recent developments in Parkinson's disease. Florham Park, NJ: Macmillan Healthcare Information; 1987.
    • (1987)
    • Fahn, S.1    Marsden, C.D.2    Calne, D.3
  • 25
    • 0001543717 scopus 로고
    • Modified mini-mental state examination: Validity and reliability
    • Stern Y, Sano M, Paulson J, Mayeux R. Modified mini-mental state examination: validity and reliability. Neurology 1987; 37(Suppl. 1):179.
    • (1987) Neurology , vol.37 , Issue.SUPPL. 1 , pp. 179
    • Stern, Y.1    Sano, M.2    Paulson, J.3    Mayeux, R.4
  • 26
    • 0025948896 scopus 로고
    • High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews
    • Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991;49:855-859.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 855-859
    • Zimran, A.1    Gelbart, T.2    Westwood, B.3
  • 27
    • 0027474810 scopus 로고
    • Identification of six new Gaucher disease mutations
    • Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics 1993;15:203-205.
    • (1993) Genomics , vol.15 , pp. 203-205
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 28
    • 0036626713 scopus 로고    scopus 로고
    • PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations
    • Mateu E, Perez-Lezaun A, Martinez-Arias R, et al. PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations. Hum Genet 2002;110:532-544.
    • (2002) Hum. Genet. , vol.110 , pp. 532-544
    • Mateu, E.1    Perez-Lezaun, A.2    Martinez-Arias, R.3
  • 29
    • 10744222014 scopus 로고    scopus 로고
    • Accuracy of family history data on Parkinson's disease
    • Marder K, Levy G, Louis ED, et al. Accuracy of family history data on Parkinson's disease. Neurology 2003;61:18-23.
    • (2003) Neurology , vol.61 , pp. 18-23
    • Marder, K.1    Levy, G.2    Louis, E.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.