Test for LRRK2 mutations in patients with Parkinson's disease

Practical Neurology

Volumn 8, Issue 6, 2008, Pages 381-385

  Healy, Daniel G ^a,b   Wood, Nicholas W ^a,b   Schapira, Anthony H V ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ARTICLE; CASE REPORT; ETHNIC GROUP; ETHNOLOGY; FAMILY; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; INHERITANCE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; STANDARD;

AGE OF ONSET; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FAMILY; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INHERITANCE PATTERNS; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES;

EID: 56849094704     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/jnnp.2008.162420     Document Type: Article

References (32)

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;44:601-7.
3. Illarioshkin SN, Shadrina MI, Slominsky PA, et al. A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia. Eur J Neurol 2007;14:413-17.
4. Nuytemans K, Rademakers R, Theuns J, et al. Founder mutation p.R1441C in the LRRK2 gene in Belgian Parkinson's disease patients. Eur J Hum Genet 2008;16:471-79.
5. Pimentel MM, Moura KC, Abdalla CB, et al. A study of LRRK2 mutations and Parkinson's disease in Brazil. Neurosci Lett 2008; 433:17-21.
6. Spanaki C, Latsoudis H, Plaitakis A. LRRK2 mutations on Crete:R1441H associated with PD evolving into PSP. Neurology 2006; 67:1518-19.
7. Marder K, Tang MX, Mejia H, et al. Risk of Parkinson's disease among first degree relatives: a community-based study. Neurology 1996;47:155-60.
8. Sveinbjornsdottir S, Hicks AA, Jonsson T, et al. Familial aggregation of PD in Iceland. N Engl J Med 2000; 343:1765-70.
9. Bonifati V, Rohe CF, Breedveld GJ, et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2005;65:87-95.
10. Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neural 2003; 54:283-6.
11. Lücking CB, Dürr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000;342:1560-7.
12. Gilks WR Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005;365:415-16.
13. Lesage S, Durr A, Tazir M, et al. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 2006; 354:422-3.
14. Ozelius U, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006;354:424-5.
15. Di Fonzo A, Rohe CF, Ferreira J, et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 2005;365:412-15.
16. Zabetian CP, Hutter CM, Yearout D, et al i. LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. Am J Hum Genet 2006;79:752-8.
17. Tan EK, Shen H, Tan LC, et al. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 2005;384:327-9.
18. Gosal D, Lynch T, Ross OA, et al. Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred. Mov Disord 2007;22:291-2.
19. Khan NI., Jain S, Lynch JM, et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 2005;128:2786-96.
20. Healy DG, Falchi M, O' Sullivan S, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7:583-90.
21. Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006; 67:1786-91.
22. Goldwurm S, Zini M, Mariani L, et al. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counselling in Parkinson's disease. Neurology 2007;68:1141-3.
23. 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; 76:672-80.
24. Mata IF, Kachergus JM, Taylor JP, et al. LRRK2 pathogenic substitutions in Parkinson's disease. Neurogenetics 2005; 6:171-7.
25. Di Fonzo A, Wu-Chou YH, Lu CS, et al. A common missense variant in the LRRK2 gene, Gly2385Arg associated with Parkinson disease risk in Taiwan. Neurogenetics 2006;7:133-8.
26. Farrer MJ, Stone JT, Lin CH, et al. LRRK2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. Porkinsonism Relat Disord 2007;13:89-92.
27. Fung HC. Chen CM, Hardy J, et al. A common genetic factor for ethnic Chinese population in Taiwan. BMC Neurol 2006;6:47.
28. Schupbach M, LohmannE, Anheim M, et al. Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations. Move Disord 2007;22:119-22.
29. Sakahuchi-Nakashima A, Meir JY, Jin Y, et al. LRK-1, a C elegans PARK8 related kinase, regulates axonal-dendritric polarity of SV proteins. Curr Biol 2007;17:592-8.
30. MacLeod D, Dowman J, Hammond R, et al. The familial parkinsonism gene LRRK2 regulates neurite process morphology. Neuron 2006; 52:587-93.
31. West AB, Moore DJ, Biskup S, et al. Parkinson's disease associated mutations in leucine rich repeat kinase augment kinase activity. Proc Natl Acad Sci 2005;105:16842-7.
32. Rajput A, Dickson DW, Robinson CA, et al. Parkinsonism, LRRK2 G2019S and tau neuropathology. Neurology 2006;67:1506-8.