메뉴 건너뛰기




Volumn 70, Issue 24, 2008, Pages 2277-2283

Genotype-phenotype correlations between gba mutations and parkinson disease risk and onsetsymbol

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; GLUCOSYLCERAMIDASE; LEUCINE RICH REPEAT KINASE 2;

EID: 46049112735     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000304039.11891.29     Document Type: Article
Times cited : (304)

References (37)
  • 1
    • 0000216808 scopus 로고    scopus 로고
    • The Metabolic and Molecular Bases of Inherited Disease
    • New York, McGraw-Hill
    • Beutler E, Grabowski G. Gaucher disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3635-3668.
    • (2001) , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.2
  • 2
    • 27744519517 scopus 로고    scopus 로고
    • Hematologically important mutations: Gaucher disease
    • Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35:355-364.
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 355-364
    • Beutler, E.1    Gelbart, T.2    Scott, C.R.3
  • 3
    • 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. QJM 1996;89:691-694.
    • (1996) QJM , vol.89 , pp. 691-694
    • Neudorfer, O.1    Giladi, N.2    Elstein, D.3
  • 4
    • 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
  • 5
    • 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
  • 6
    • 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
  • 7
    • 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 A 2003;116:348-351.
    • (2003) Am J Med Genet A , vol.116 , pp. 348-351
    • Varkonyi, J.1    Rosenbaum, H.2    Baumann, N.3
  • 8
    • 10744226352 scopus 로고    scopus 로고
    • Gaucher's disease with Parkinson's disease: clinical and pathological aspects
    • Bembi B, Zambito MS, Sidransky E, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003;61:99-101.
    • (2003) Neurology , vol.61 , pp. 99-101
    • Bembi, B.1    Zambito, M.S.2    Sidransky, E.3
  • 11
    • 33845994703 scopus 로고    scopus 로고
    • Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier
    • Kono S, Shirakawa K, Ouchi Y, et al. Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier. J Neurol Sci 2007;252:181-184.
    • (2007) J Neurol Sci , vol.252 , pp. 181-184
    • Kono, S.1    Shirakawa, K.2    Ouchi, Y.3
  • 12
    • 33646837867 scopus 로고    scopus 로고
    • Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
    • Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006;36:426-428.
    • (2006) Blood Cells Mol Dis , vol.36 , pp. 426-428
    • Halperin, A.1    Elstein, D.2    Zimran, A.3
  • 14
    • 13844317890 scopus 로고    scopus 로고
    • Eblan MJ, Walker JM, Sidransky E. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 352:728-731, 2005; author reply 728-731.
    • Eblan MJ, Walker JM, Sidransky E. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 352:728-731, 2005; author reply 728-731.
  • 15
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
    • (2004) N Engl J Med , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 16
    • 13844317890 scopus 로고    scopus 로고
    • Zimran A, Neudorfer O, Elstein D. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 352:728-731, 2005; author reply 728-731.
    • Zimran A, Neudorfer O, Elstein D. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 352:728-731, 2005; author reply 728-731.
  • 17
    • 14044262300 scopus 로고    scopus 로고
    • Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
    • Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord 2005;20:100-103.
    • (2005) Mov Disord , vol.20 , pp. 100-103
    • Clark, L.N.1    Nicolai, A.2    Afridi, S.3
  • 18
    • 20944434070 scopus 로고    scopus 로고
    • Analysis of the glucocerebrosidase gene in Parkinson's disease
    • Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367-370.
    • (2005) Mov Disord , vol.20 , pp. 367-370
    • Sato, C.1    Morgan, A.2    Lang, A.E.3
  • 19
    • 33644935848 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
    • Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006;21:282-283.
    • (2006) Mov Disord , vol.21 , pp. 282-283
    • Eblan, M.J.1    Nguyen, J.2    Ziegler, S.G.3
  • 20
    • 34248594808 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
    • Ziegler SG, Eblan MJ, Gutti U, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007;91:195-200.
    • (2007) Mol Genet Metab , vol.91 , pp. 195-200
    • Ziegler, S.G.1    Eblan, M.J.2    Gutti, U.3
  • 21
    • 34447273298 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations and risk of Parkinson disease in chinese patients
    • Tan EK, Tong J, Fook-Chong S, et al. Glucocerebrosidase mutations and risk of Parkinson disease in chinese patients. Arch Neurol 2007;64:1056-1058.
    • (2007) Arch Neurol , vol.64 , pp. 1056-1058
    • Tan, E.K.1    Tong, J.2    Fook-Chong, S.3
  • 22
    • 33646171709 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
    • Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006;66:415-417.
    • (2006) Neurology , vol.66 , pp. 415-417
    • Toft, M.1    Pielsticker, L.2    Ross, O.A.3    Aasly, J.O.4    Farrer, M.J.5
  • 23
    • 34548173473 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
    • Wu YR, Chen CM, Chao CY, et al. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry 2007;78:977-979.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 977-979
    • Wu, Y.R.1    Chen, C.M.2    Chao, C.Y.3
  • 24
    • 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
  • 25
    • 35848939603 scopus 로고    scopus 로고
    • The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson's disease: is there a gender effect?
    • Orr-Urtreger A, Shifrin C, Rozovski U, et al. The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson's disease: is there a gender effect? Neurology 2007;69:1595-1602.
    • (2007) Neurology , vol.69 , pp. 1595-1602
    • Orr-Urtreger, A.1    Shifrin, C.2    Rozovski, U.3
  • 26
    • 7344232563 scopus 로고    scopus 로고
    • Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population
    • Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 1998;12:240-244.
    • (1998) Hum Mutat , vol.12 , pp. 240-244
    • Horowitz, M.1    Pasmanik-Chor, M.2    Borochowitz, Z.3
  • 27
    • 0036138219 scopus 로고    scopus 로고
    • Cross-sectional study of the prevalence of Parkinson's disease in the Kibbutz movement in Israel
    • Anca M, Paleacu D, Shabtai H, Giladi N. Cross-sectional study of the prevalence of Parkinson's disease in the Kibbutz movement in Israel. Neuroepidemiology 2002;21:50-55.
    • (2002) Neuroepidemiology , vol.21 , pp. 50-55
    • Anca, M.1    Paleacu, D.2    Shabtai, H.3    Giladi, N.4
  • 28
    • 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
  • 29
    • 15244348524 scopus 로고    scopus 로고
    • Gaucher disease and parkinsonism
    • Sidransky E. Gaucher disease and parkinsonism. Mol Genet Metab 2005;84:302-304.
    • (2005) Mol Genet Metab , vol.84 , pp. 302-304
    • Sidransky, E.1
  • 31
    • 33645116252 scopus 로고    scopus 로고
    • Genetics of Parkinson disease: paradigm shifts and future prospects
    • Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006;7:306-318.
    • (2006) Nat Rev Genet , vol.7 , pp. 306-318
    • Farrer, M.J.1
  • 32
    • 31344439221 scopus 로고    scopus 로고
    • LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
    • Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006;354:424-425.
    • (2006) N Engl J Med , vol.354 , pp. 424-425
    • Ozelius, L.J.1    Senthil, G.2    Saunders-Pullman, R.3
  • 33
    • 33845453622 scopus 로고    scopus 로고
    • Frequency of LRRK2 mutations in early- and late-onset Parkinson disease
    • Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006;67:1786-1791.
    • (2006) Neurology , vol.67 , pp. 1786-1791
    • Clark, L.N.1    Wang, Y.2    Karlins, E.3
  • 34
    • 0141741347 scopus 로고    scopus 로고
    • Parkinson's disease: mechanisms and models
    • Dauer W, Przedborski S. Parkinson's disease: mechanisms and models. Neuron 2003;39:889-909.
    • (2003) Neuron , vol.39 , pp. 889-909
    • Dauer, W.1    Przedborski, S.2
  • 35
    • 0242363670 scopus 로고    scopus 로고
    • Molecular pathways of neurodegeneration in Parkinson's disease
    • Dawson TM, Dawson VL. Molecular pathways of neurodegeneration in Parkinson's disease. Science 2003;302:819-822.
    • (2003) Science , vol.302 , pp. 819-822
    • Dawson, T.M.1    Dawson, V.L.2
  • 36
    • 22244442489 scopus 로고    scopus 로고
    • The biochemistry of Parkinson's disease
    • Cookson MR. The biochemistry of Parkinson's disease. Annu Rev Biochem 2005;74:29-52.
    • (2005) Annu Rev Biochem , vol.74 , pp. 29-52
    • Cookson, M.R.1
  • 37
    • 34447289622 scopus 로고    scopus 로고
    • Pathogenic mutations in Parkinson disease
    • Tan EK, Skipper LM. Pathogenic mutations in Parkinson disease. Hum Mutat 2007;28:641-653.
    • (2007) Hum Mutat , vol.28 , pp. 641-653
    • Tan, E.K.1    Skipper, L.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.