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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

Healy, Daniel G, Falchi, Mario, O'Sullivan, Sean S, Bonifati, Vincenzo, Durr, Alexandra, Bressman, Susan, Brice, Alexis, Aasly, Jan, Zabetian, Cyrus P, Goldwurm, Stefano, Ferreira, Joaquim J, Tolosa, Eduardo, Kay, Denise M, Klein, Christine, Williams, David R, Marras, Connie, Lang, Anthony E, Wszolek, Zbigniew K, Berciano, Jose, Schapira, Anthony HV, Lynch, Timothy, Bhatia, Kailash P, Gasser, Thomas, Lees, Andrew J, Wood, Nicholas W·2008·The Lancet Neurology
DOI 10.1016/s1474-4422(08)70117-0PMC PMC2832754
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Research works printed but not linked: 29

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  2. Paisan-Ruiz, 2004, Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease, Neuron, 44, 595, 10.1016/j.neuron.2004.10.023 · DOI
  3. Zimprich, 2004, Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology, Neuron, 44, 601, 10.1016/j.neuron.2004.11.005 · DOI
  4. Whaley, 2006, Clinical and pathologic features of families with LRRK2-associated Parkinson's disease, J Neural Transm, 70, 221, 10.1007/978-3-211-45295-0_34 · DOI
  5. Lesage, 2006, LRRK2 G2019S as a cause of Parkinson's disease in north African Arabs, N Engl J Med, 354, 422, 10.1056/NEJMc055540 · DOI · Paper page
  6. Gilks, 2005, A common LRRK2 mutation in idiopathic Parkinson's disease, Lancet, 365, 415
  7. Ozelius, 2006, LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews, N Engl J Med, 354, 424, 10.1056/NEJMc055509 · DOI
  8. Doty, 1984, Development of the University of Pennsylvania smell identification test: a standardised micro-encapsulated test of olfactory function, Physio Behav, 32, 489, 10.1016/0031-9384(84)90269-5 · DOI · Paper page
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  11. Van Den Eeden, 2003, Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity, Am J Epidemiol, 157, 1015, 10.1093/aje/kwg068 · DOI
  12. Cannings, 1977, Ascertainment in sequential sampling of pedigrees, Clin Genet, 12, 208, 10.1111/j.1399-0004.1977.tb00928.x · DOI
  13. Kitada, 1998, Mutations in the parkin gene cause autosomal recssive juvenile parkinsonism, Nature, 392, 605, 10.1038/33416 · DOI · Paper page
  14. Lücking, 2000, Association between early-onset Parkinson's disease and mutations in the parkin gene, N Engl J Med, 342, 1560, 10.1056/NEJM200005253422103 · DOI
  15. Schrag, 2000, Cross-sectional prevalence survey of idiopathic Parkinson's disease and parkinsonism in London, BMJ, 321, 21, 10.1136/bmj.321.7252.21 · DOI
  16. Schrag, 1999, Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study, Lancet, 354, 1771, 10.1016/S0140-6736(99)04137-9 · DOI
  17. Traynor, 1999, Incidence and prevalence of ALS in Ireland, 1995–1997: a population-based study, Neurology, 52, 504, 10.1212/WNL.52.3.504 · DOI · Paper page
  18. Kokmen, 1994, Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989), Arch Neurol, 51, 696, 10.1001/archneur.1994.00540190076018 · DOI
  19. Katzenschlager, 2004, Olfactory function distinguishes vascular parkinsonism from Parkinson's disease, J Neurol Neurosurg Psychiatry, 75, 1749, 10.1136/jnnp.2003.035287 · DOI
  20. Soucie, 1998, Occurrence of hemophilia in the United States, Am J Hemat, 59, 288, 10.1002/(SICI)1096-8652(199812)59:4<288::AID-AJH4>3.0.CO;2-I · DOI
  21. Khan, 2003, Parkin disease: a phenotypic study of a large case series, Brain, 126, 1279, 10.1093/brain/awg142 · DOI
  22. Bonifati, 2005, Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes, Neurology, 65, 87, 10.1212/01.wnl.0000167546.39375.82 · DOI
  23. Abou-Sleiman, 2003, The role of pathogenic DJ-1 mutations in Parkinson's disease, Ann Neurol, 54, 283, 10.1002/ana.10675 · DOI
  24. Maraganore, 1999, Autopsy patterns for Parkinson's disease and related disorders in Olmsted County, Minnesota, Neurology, 53, 1342, 10.1212/WNL.53.6.1342 · DOI
  25. Clark, 2006, Frequency of LRRK2 mutations in early- and late-onset Parkinson's disease, Neurology, 67, 1786, 10.1212/01.wnl.0000244345.49809.36 · DOI
  26. Goldwurm, 2007, Evaluation of LRRK2 G2019S penetrance: relevance for genetic counselling in Parkinson's disease, Neurology, 68, 1141, 10.1212/01.wnl.0000254483.19854.ef · DOI
  27. Kachergus, 2005, Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations, Am J Hum Genet, 76, 672, 10.1086/429256 · DOI
  28. Mata, 2005, LRRK2 pathogenic substitutions in Parkinson's disease, Neurogenetics, 6, 171, 10.1007/s10048-005-0005-1 · DOI
  29. Begg, 2002, On the use of familial aggregation in population-based case probands for calculating penetrance, J Natl Cancer Inst, 94, 221, 10.1093/jnci/94.16.1221 · DOI

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Metadata

Authors
Healy, D. G., Falchi, M., O'Sullivan, S. S., Bonifati, V., Durr, A., Bressman, S., Brice, A., Aasly, J., Zabetian, C. P., Goldwurm, S., Ferreira, J. J., Tolosa, E., Kay, D. M., Klein, C., Williams, D. R., Marras, C., Lang, A. E., Wszolek, Z. K., Berciano, J., Schapira, A. H., Lynch, T., Bhatia, K. P., Gasser, T., Lees, A. J., & Wood, N. W.
Venue
The Lancet Neurology
Publisher
Elsevier BV
Published
2008-07
Volume
7
Issue
7
Pages
583-590
ISSN
1474-4422
DOI
10.1016/s1474-4422(08)70117-0
PMC
PMC2832754
Cited by
1,425
References
3
Language
en
Licence

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