LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

Neurology

Volumn 65, Issue 5, 2005, Pages 696-700

  Paisan Ruiz C ^a,b   Lang, A E ^c,e   Kawarai, T ^d   Sato, C ^d   Salehi Rad, S ^d   Fisman, G K ^c   Al Khairallah, T ^c   St George Hyslop, P ^c,d,e   Singleton, A ^a   Rogaeva, E ^d,e  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^c TORONTO WESTERN HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; LEUCINE RIH REPEAT KINASE 2; PARKIN; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CANADA; CONTROLLED STUDY; DJ 1 GENE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; LRRK2 GENE; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; PINK1 GENE; PRIORITY JOURNAL; RISK FACTOR; SNCA GENE;

EID: 24644431901     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000167552.79769.b3     Document Type: Article

References (23)

1. Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004; 44:595-600.
2. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
3. Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001;57:1497-1499.
4. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259.
5. Hattori N, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 1998;44:935-941.
6. Rogaeva E, Johnson J, Lang AE, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson's. Dis Arch Neurol 2004;61:1898-1904.
7. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
8. Hernandez DG, Paisan-Ruiz C, McInerney-Leo A, et al. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol 2005;57:453-456.
9. Bell PA, Chaturvedi S, Gelfand CA, et al. SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 2002;Suppl:70-77.
10. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apoliprotein E allele [epsis]4 with the late-onset familial and sporadic Alzheimer disease. Neurology 1993;43;1467-1472.
11. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003;19:149-150.
12. Nichols WC, Pankratz N, Hernandez D, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005;365:410-412.
13. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005;365:415-416.
14. Di Fonzo A, Rohe CF, Ferreira J, et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 2005;365:412-415.
15. Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2004 [Epub ahead of print] PMID: 15517592.
16. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
17. 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.
18. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392: 605-608.
19. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304: 1158-1160.
20. Kachergus J, Mata IF, Hulihan M, 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 2005;76: [Epub ahead of print].
21. Li YJ, Hauser MA, Scott WK, et al. Apolipoprotein E controls the risk and age at onset of Parkinson disease. Neurology 2004;62:2005-2009.
22. Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 1999;8:567-574.
23. West A, Periquet M, Lincoln S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002;114:584-591.