Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Archives of Neurology

Volumn 63, Issue 9, 2006, Pages 1250-1254

  Ishihara, Lianna ^a   Warren, Liling ^b   Gibson, Rachel ^b   Amouri, Rim ^c   Lesage, Suzanne ^d,e,f   Dürr, Alexandra ^d,e,f   Tazir, Meriem ^g   Wszolek, Zbigniew K ^h   Uitti, Ryan J ^h   Nichols, William C ⁱ   Griffith, Alida ^j   Hattori, Nobutaka ^k   Leppert, David ^b   Watts, Ray ^l   Zabetian, Cyrus P ^m,n   Foroud, Tatiana M ^o   Farrer, Matthew J ^h   Brice, Alexis ^d,e,f   Middleton, Lefkos ^b   Hentati, Faycal ^c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b GLAXOSMITHKLINE   (United Kingdom)

^c Institut National de Neurologie Tunisia   (Tunisia)

^d INSERM   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g CHU Mustapha   (Algeria)

^h MAYO CLINIC   (United States)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^j Evergreen Hospital Medical Center   (United States)

^k JUNTENDO UNIVERSITY   (Japan)

^l The University of Alabama at Birmingham   (United States)

^m UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁿ VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^o INDIANA UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; LEVODOPA; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADULT; AGED; ALGERIA; ARTICLE; BODY EQUILIBRIUM; BRADYKINESIA; CANADA; CLINICAL FEATURE; DEMOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOROCCO; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; TREMOR; TUNISIA; UNITED STATES;

AGED; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SERINE;

EID: 33748621731     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.9.1250     Document Type: Article

References (31)

1. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004;44:601-607.
2. Ross OA, Toft M, Whittle AJ, et al. LRRK2 and Lewy body disease. Ann Neurol. 2006;59:388-393.
3. Berg D, Schweitzer K, Leitner P, et al. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain. 2005;128:3000-3011.
4. 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.
5. Mata IF, Taylor JP, Kachergus J, et al. LRRK2 R1441G in Spanish patients with Parkinson's disease. Neurosci Lett. 2005;382:309-311.
6. Brice A. Genetics of Parkinson's disease: LRRK2 on the rise. Brain. 2005;128:2760-2762.
7. Zabetian CP, Samii A, Mosley AD, et al. A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. Neurology. 2005;65:741-744.
8. Aasly JO, Toft M, Fernandez-Mata I, et al. Clinical features of LRRK2-associated Parkinson's disease in central Norway. Ann Neurol. 2005;57:762-765.
9. Biskup S, Mueller JC, Sharma M, et al. Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Ann Neurol. 2005;58:905-908.
10. Lesage S, Ibanez P, Lohmann E, et al. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol. 2005;58:784-787.
11. Deng H, Le W, Guo Y, et al. Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation. Ann Neurol. 2005;57:933-934.
12. Infante J, Rodriguez E, Combarros O, et al. LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease. Neurosci Lett. 2006;395:224-226.
13. Funayama M, Hasegawa K, Ohta E, et al. An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol. 2005;57:918-921.
14. Nichols WC, Pankratz N, Hernandez D, et al. Genetic screening for a single common common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-412.
15. Kay DM, Zabetian CP, Factor SA, et al. Parkinson's disease and LRRK2: frequency of a common mutation in US movement disorder clinics. Mov Disord. 2006;21:519-523.
16. 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;354:422-423.
17. Hughes AJ, Ben-Shlomo Y, Daniel SE, Lees AJ. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathologic study [published correction appears in Neurology. 1992;42:1436]. Neurology. 1992;42:1142-1146.
18. Kabir ZN, Herlitz A. The Bangla adaptation of Mini-Mental State Examination (BAMSE): an instrument to assess cognitive function in illiterate and literate individuals. Int J Geriatr Psychiatry. 2000;15:441-450.
19. Taylor JD, Briley D, Nguyen Q, et al. Flow cytometric platform for high-throughput single nucleotide polymorphism analysis. Biotechniques. 2001;30:661-669.
20. 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.
21. Farrer M, Stone J, Mata IF, et al. LRRK2 mutations in Parkinson disease. Neurology. 2005;65:738-740.
22. Goldwurm S, DiFonzo A, Simons EJ, 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. 2005;42:e65. doi:10.1136/jmg.2005.035568. Accessed January 31, 2006.
23. Hernandez DG, Paisan-Ruiz C, Inerney-Leo A, et al. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol. 2005;57:453-456.
24. Gosal D, Ross OA, Wiley J, et al. Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. Parkinsonism Relat Disord. 2005;11:349-352.
25. Khan NL, 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;128:2786-2796.
26. Paisan-Ruiz C, Lang AE, Kawarai T, et al. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology. 2005;65:696-700.
27. Bras JM, Guerreiro RJ, Ribeiro MH, et al. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord. 2005;20:1653-1655.
28. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet. 2005;365:415-416.
29. 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;76:672-680.
30. Mentis MJ, Delalot D. Depression in Parkinson's disease. Adv Neurol. 2005;96:26-41.
31. Mata IF, Kachergus JM, Taylor JP, et al. LRRK2 pathogenic substitutions in Parkinson's disease. Neurogenetics. 2005;6:171-177.