Clinical expression of LRRK2 G2019S mutations in the elderly

Movement Disorders

Volumn 25, Issue 15, 2010, Pages 2571-2576

  Luciano, Marta San ^a   Lipton, Richard B ^b   Wang, Cuiling ^b   Katz, Mindy ^b   Zimmerman, Molly E ^b   Sanders, Amy E ^b   Ozelius, Laurie J ^c   Bressman, Susan B ^a,b   Saunders Pullman, Rachel ^a,b  

^a BETH ISRAEL MEDICAL CENTER   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Clinical; Cognition; LRRK2; Nonmanifesting carriers; Parkinson's disease; Parkinsonism; Penetrance

Indexed keywords

LEUCINE RICH REPEAT KINASE 2;

AGED; AGING; ARTICLE; COGNITION; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR PERFORMANCE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; UNIFIED PARKINSON DISEASE RATING SCALE;

AGE FACTORS; AGED; AGED, 80 AND OVER; AGING; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; JEWS; MALE; MUTATION; NEUROPSYCHOLOGICAL TESTS; PENETRANCE; PROTEIN-SERINE-THREONINE KINASES;

EID: 78349293762     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23330     Document Type: Article

References (34)

1. de Rijk MC, Breteler MMB, Graveland GA, et al. Prevalence of Parkinson's disease in the elderly: the Rotterdam study. Neurology 1995; 45: 2143-2146.
2. de Rijk MC, Launer LJ, Berger K, Breteler MM, Dartigues JF, Baldereschi M. Prevalence of Parkinson's disease in Europe: a collaborative study of population-based cohorts. Neurology 2000; 54: S21-S23.
3. Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 2002; 51: 296-301.
4. 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.
5. Healy DG, Falchi M, O'Sullivan SS et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008; 7: 583-590.
6. Correia Guedes L, Ferreira JJ, Rosa MM, Coelho M, Bonifati V, Sampaio C. Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review. Parkinsonism Relat Disord 2010; 16: 237-242.
7. 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.
8. 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.
9. 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.
10. Orr-Urtreger A, Shifrin C, Rozovski U, et al. The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect? Neurology 2007; 69: 1595-1602.
11. Hulihan MM, Ishihara-Paul L, Kachergus J, et al. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol 2008; 7: 591-594.
12. Lesage S, Belarbi S, Troiano A, et al. Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? Neurology 2008; 71: 1550-1552.
13. Thaler A, Ash E, Gan-Or Z, Orr-Urtreger A, Giladi N. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. J Neural Transm 2009; 116: 1473-1482.
14. Zabetian CP, Hutter CM, Yearout D, et al. 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: 752-758.
15. Warren L, Gibson R, Ishihara L, et al. A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease. Parkinsonism Relat Disord 2008; 14: 77-80.
16. Bar-Shira A, Hutter CM, Giladi N, Zabetian CP, Orr-Urtreger A. Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries. Neurogenetics 2009; 10: 355-358.
17. Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006; 67: 1786-1791.
18. Lipton RB, Katz MJ, Kuslansky G, et al. Screening for dementia by telephone using the memory impairment screen. J Am Geriatr Soc 2003; 51: 1382-1390.
19. Fahn S, Elton RL. Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Calne DB, Goldstein M, editors. Recent development in Parkinson's disease. Florham Park, New Jersey: Macmillan Health Care Information; 1987. p 153-164.
20. Hughes C, Berg L, Danziger W, Coben L, Martin R. A new clinical scale for the staging of dementia. Br J Psychiatry 1982; 140: 566-572.
21. Morris JC. The clinical dementia rating (CDR): current version and scoring rules. Neurology 1993; 43: 2412-2414.
22. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
23. de Rijk MC, Rocca WA, Anderson DW, Melcon MO, Breteler MM, Maraganore DM. A population perspective on diagnostic criteria for Parkinson's disease. Neurology 1997; 48: 1277-1281.
24. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Association; 1994.
25. Verghese J, Lipton RB, Hall CB, Kuslansky G, Katz MJ, Buschke H. Abnormality of gait as a predictor of non-Alzheimer's dementia. N Engl J Med 2002; 347: 1761-1768.
26. Vickers D, Vincent N, Medvedev A. The geometric structure, construction, and interpretation of path-following (trail-making) tests. J Clin Psychol 1996; 52: 651-661.
27. Misdraji EL, Gass CS. The trail making test and its neurobehavioral components. J Clin Exp Neuropsychol 2010; 32: 159-163.
28. Saunders-Pullman R, Lipton RB, Senthil G, et al. Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia. Neurosci Lett 2006; 402: 92-96.
29. Bennett DA, Beckett LA, Murray AM, et al. Prevalence of parkinsonian signs and associated mortality in a community population of older people. N Engl J Med 1996; 334: 71-76.
30. Goldwurm S, Zini M, Di Fonzo A, et al. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord 2006; 12: 410-419.
31. Lesage S, Leclere L, Lohmann E, et al. Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neurodegener Dis 2007; 4: 195--198.
32. De Rosa A, Criscuolo C, Mancini P, et al. Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. Parkinsonism Relat Disord 2009; 15: 242-244.
33. Gan-Or Z, Bar-Shira A, Mirelman A, et al. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics 2010; 11: 121-125.
34. Tolosa E, Compta Y, Gaig C. The premotor phase of Parkinson's disease. Parkinsonism Relat Disord 2007; 13(suppl): S2-S7.