메뉴 건너뛰기




Volumn 13, Issue 1, 2007, Pages 17-21

LRRK2 mutations and Parkinson's disease in Sardinia-A Mediterranean genetic isolate

Author keywords

Genetic isolates; LRRK2; Mutation; Parkinson's disease; Sardinia

Indexed keywords

ARGININE; GLYCINE; LEUCINE RICH REPEAT KINASE 2; SERINE;

EID: 33846526175     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2006.06.010     Document Type: Article
Times cited : (17)

References (37)
  • 1
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology
    • Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., et al. Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3    Lichtner, P.4    Farrer, M.5    Lincoln, S.6
  • 2
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C., Jain S., Evans E.W., Gilks W.P., Simon J., van der Brug M., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004) 595-600
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3    Gilks, W.P.4    Simon, J.5    van der Brug, M.6
  • 3
    • 33748876153 scopus 로고    scopus 로고
    • Bonifati V. The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics. Eur J Hum Genet 2006; Epub ahead of print, July 12. doi:10.1038/sj.ejhg.5201695.
  • 5
    • 28544446980 scopus 로고    scopus 로고
    • G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
    • Bras J.M., Guerreiro R.J., Ribeiro M.H., Januario C., Morgadinho A., Oliveira C.R., et al. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord 20 (2005) 1653-1655
    • (2005) Mov Disord , vol.20 , pp. 1653-1655
    • Bras, J.M.1    Guerreiro, R.J.2    Ribeiro, M.H.3    Januario, C.4    Morgadinho, A.5    Oliveira, C.R.6
  • 6
    • 33644929033 scopus 로고    scopus 로고
    • LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance
    • Gaig C., Ezquerra M., Marti M.J., Munoz E., Valldeoriola F., and Tolosa E. LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. Arch Neurol 63 (2006) 377-382
    • (2006) Arch Neurol , vol.63 , pp. 377-382
    • Gaig, C.1    Ezquerra, M.2    Marti, M.J.3    Munoz, E.4    Valldeoriola, F.5    Tolosa, E.6
  • 7
    • 32244446461 scopus 로고    scopus 로고
    • LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease
    • Infante J., Rodriguez E., Combarros O., Mateo I., Fontalba A., Pascual J., et al. LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease. Neurosci Lett 395 (2005) 224-226
    • (2005) Neurosci Lett , vol.395 , pp. 224-226
    • Infante, J.1    Rodriguez, E.2    Combarros, O.3    Mateo, I.4    Fontalba, A.5    Pascual, J.6
  • 10
    • 33645160640 scopus 로고    scopus 로고
    • The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor
    • Goldwurm S., Di Fonzo A., Simons E.J., Rohe C.F., Zini M., Canesi M., et al. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. J Med Genet 42 (2005) e65
    • (2005) J Med Genet , vol.42
    • Goldwurm, S.1    Di Fonzo, A.2    Simons, E.J.3    Rohe, C.F.4    Zini, M.5    Canesi, M.6
  • 11
    • 33748946787 scopus 로고    scopus 로고
    • Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, et al. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord 2006; Epub ahead of print, June 2. doi:10.1016/j.parkreldis.2006.04.001.
  • 14
    • 27744446035 scopus 로고    scopus 로고
    • The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
    • Lu C.S., Simons E.J., Wu-Chou Y.H., Di Fonzo A., Chang H.C., Chen R.S., et al. The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. Parkinsonism Relat Disord 11 (2005) 521-522
    • (2005) Parkinsonism Relat Disord , vol.11 , pp. 521-522
    • Lu, C.S.1    Simons, E.J.2    Wu-Chou, Y.H.3    Di Fonzo, A.4    Chang, H.C.5    Chen, R.S.6
  • 15
    • 20644455323 scopus 로고    scopus 로고
    • The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
    • Tan E.K., Shen H., Tan L.C., Farrer M., Yew K., Chua E., et al. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 384 (2005) 327-329
    • (2005) Neurosci Lett , vol.384 , pp. 327-329
    • Tan, E.K.1    Shen, H.2    Tan, L.C.3    Farrer, M.4    Yew, K.5    Chua, E.6
  • 16
    • 0034634349 scopus 로고    scopus 로고
    • The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective
    • Semino O., Passarino G., Oefner P.J., Lin A.A., Arbuzova S., Beckman L.E., et al. The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290 (2000) 1155-1159
    • (2000) Science , vol.290 , pp. 1155-1159
    • Semino, O.1    Passarino, G.2    Oefner, P.J.3    Lin, A.A.4    Arbuzova, S.5    Beckman, L.E.6
  • 17
    • 0038120883 scopus 로고    scopus 로고
    • Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability
    • Francalacci P., Morelli L., Underhill P.A., Lillie A.S., Passarino G., Useli A., et al. Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 121 (2003) 270-279
    • (2003) Am J Phys Anthropol , vol.121 , pp. 270-279
    • Francalacci, P.1    Morelli, L.2    Underhill, P.A.3    Lillie, A.S.4    Passarino, G.5    Useli, A.6
  • 18
    • 0034642291 scopus 로고    scopus 로고
    • Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection
    • Zavattari P., Deidda E., Whalen M., Lampis R., Mulargia A., Loddo M., et al. Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection. Hum Mol Genet 9 (2000) 2947-2957
    • (2000) Hum Mol Genet , vol.9 , pp. 2947-2957
    • Zavattari, P.1    Deidda, E.2    Whalen, M.3    Lampis, R.4    Mulargia, A.5    Loddo, M.6
  • 19
    • 0347287086 scopus 로고    scopus 로고
    • Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations
    • Tenesa A., Wright A.F., Knott S.A., Carothers A.D., Hayward C., Angius A., et al. Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. Hum Mol Genet 13 (2004) 25-33
    • (2004) Hum Mol Genet , vol.13 , pp. 25-33
    • Tenesa, A.1    Wright, A.F.2    Knott, S.A.3    Carothers, A.D.4    Hayward, C.5    Angius, A.6
  • 20
    • 33646375453 scopus 로고    scopus 로고
    • Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    • Service S., Deyoung J., Karayiorgou M., Roos J.L., Pretorious H., Bedoya G., et al. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 38 (2006) 556-560
    • (2006) Nat Genet , vol.38 , pp. 556-560
    • Service, S.1    Deyoung, J.2    Karayiorgou, M.3    Roos, J.L.4    Pretorious, H.5    Bedoya, G.6
  • 21
    • 0035692034 scopus 로고    scopus 로고
    • West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history
    • Grimaldi M.C., Crouau-Roy B., Amoros J.P., Cambon-Thomsen A., Carcassi C., Orru S., et al. West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history. Tissue Antigens 58 (2001) 281-292
    • (2001) Tissue Antigens , vol.58 , pp. 281-292
    • Grimaldi, M.C.1    Crouau-Roy, B.2    Amoros, J.P.3    Cambon-Thomsen, A.4    Carcassi, C.5    Orru, S.6
  • 22
    • 2342605968 scopus 로고    scopus 로고
    • Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    • Wszolek Z.K., Pfeiffer R.F., Tsuboi Y., Uitti R.J., McComb R.D., Stoessl A.J., et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62 (2004) 1619-1622
    • (2004) Neurology , vol.62 , pp. 1619-1622
    • Wszolek, Z.K.1    Pfeiffer, R.F.2    Tsuboi, Y.3    Uitti, R.J.4    McComb, R.D.5    Stoessl, A.J.6
  • 25
    • 24644486896 scopus 로고    scopus 로고
    • A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations
    • Zabetian C.P., Samii A., Mosley A.D., Roberts J.W., Leis B.C., Yearout D., et al. A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. Neurology 65 (2005) 741-744
    • (2005) Neurology , vol.65 , pp. 741-744
    • Zabetian, C.P.1    Samii, A.2    Mosley, A.D.3    Roberts, J.W.4    Leis, B.C.5    Yearout, D.6
  • 26
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases
    • Hughes A.J., Daniel S.E., Kilford L., and Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55 (1992) 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
  • 27
    • 33846550205 scopus 로고    scopus 로고
    • Fahn S, Elton RL, Members of the UPDRS Development Committee. Unified Parkinson's Disease Rating Scale. Recent Developments in Parkinson's Disease. New York: Macmillan; 1987: 153-63.
  • 28
    • 19944431081 scopus 로고    scopus 로고
    • A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
    • Di Fonzo A., Rohe C.F., Ferreira J., Chien H.F., Vacca L., Stocchi F., et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365 (2005) 412-415
    • (2005) Lancet , vol.365 , pp. 412-415
    • Di Fonzo, A.1    Rohe, C.F.2    Ferreira, J.3    Chien, H.F.4    Vacca, L.5    Stocchi, F.6
  • 29
    • 20144387207 scopus 로고    scopus 로고
    • Identification of a Novel LRRK2 mutation linked to autosomal dominant Parkinsonism: evidence of a common founder across European populations
    • Kachergus J., Mata I.F., Hulihan M., Taylor J.P., Lincoln S., Aasly J., et al. Identification of a Novel LRRK2 mutation linked to autosomal dominant Parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 76 (2005) 672-680
    • (2005) Am J Hum Genet , vol.76 , pp. 672-680
    • Kachergus, J.1    Mata, I.F.2    Hulihan, M.3    Taylor, J.P.4    Lincoln, S.5    Aasly, J.6
  • 30
    • 22544465257 scopus 로고    scopus 로고
    • LRRK2 haplotype analyses in European and North African families with Parkinson's disease: a common founder for the G2019S mutation dating from the 13th century
    • Lesage S., Leutenegger A.-L., Ibanez P., Janin S., Lohmann E., Durr A., et al. LRRK2 haplotype analyses in European and North African families with Parkinson's disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet 77 (2005) 330-332
    • (2005) Am J Hum Genet , vol.77 , pp. 330-332
    • Lesage, S.1    Leutenegger, A.-L.2    Ibanez, P.3    Janin, S.4    Lohmann, E.5    Durr, A.6
  • 31
    • 0036196860 scopus 로고    scopus 로고
    • A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    • Funayama M., Hasegawa K., Kowa H., Saito M., Tsuji S., and Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51 (2002) 296-301
    • (2002) Ann Neurol , vol.51 , pp. 296-301
    • Funayama, M.1    Hasegawa, K.2    Kowa, H.3    Saito, M.4    Tsuji, S.5    Obata, F.6
  • 32
    • 9144261126 scopus 로고    scopus 로고
    • The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
    • Zimprich A., Muller-Myhsok B., Farrer M., Leitner P., Sharma M., Hulihan M., et al. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am J Hum Genet 74 (2004) 11-19
    • (2004) Am J Hum Genet , vol.74 , pp. 11-19
    • Zimprich, A.1    Muller-Myhsok, B.2    Farrer, M.3    Leitner, P.4    Sharma, M.5    Hulihan, M.6
  • 33
    • 26444613397 scopus 로고    scopus 로고
    • Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
    • Kay D.M., Kramer P., Higgins D., Zabetian C.P., and Payami H. Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation. Mov Disord 20 (2005) 1077-1078
    • (2005) Mov Disord , vol.20 , pp. 1077-1078
    • Kay, D.M.1    Kramer, P.2    Higgins, D.3    Zabetian, C.P.4    Payami, H.5
  • 34
    • 28544434193 scopus 로고    scopus 로고
    • PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
    • Adams J.R., van Netten H., Schulzer M., Mak E., McKenzie J., Strongosky A., et al. PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. Brain 128 (2005) 2777-2785
    • (2005) Brain , vol.128 , pp. 2777-2785
    • Adams, J.R.1    van Netten, H.2    Schulzer, M.3    Mak, E.4    McKenzie, J.5    Strongosky, A.6
  • 36
    • 0036796422 scopus 로고    scopus 로고
    • Gene finding in genetically isolated populations
    • Heutink P., and Oostra B.A. Gene finding in genetically isolated populations. Hum Mol Genet 11 (2002) 2507-2515
    • (2002) Hum Mol Genet , vol.11 , pp. 2507-2515
    • Heutink, P.1    Oostra, B.A.2
  • 37
    • 2542446307 scopus 로고    scopus 로고
    • Isolates and their potential use in complex gene mapping efforts
    • Varilo T., and Peltonen L. Isolates and their potential use in complex gene mapping efforts. Curr Opin Genet Dev 14 (2004) 316-323
    • (2004) Curr Opin Genet Dev , vol.14 , pp. 316-323
    • Varilo, T.1    Peltonen, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.