The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease
K. Kalinderi
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorL. Fidani
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorS. Bostantjopoulou
Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorZ. Katsarou
Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorA. Kotsis
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorK. Kalinderi
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorL. Fidani
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorS. Bostantjopoulou
Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorZ. Katsarou
Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorA. Kotsis
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Search for more papers by this authorAbstract
Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting approximately 2% of the population >60 years of age. Although, the etiology of PD is still unknown, the genetic background of the disease has been documented. Recently, a mutation in the LRRK2 gene, G2019S, was associated with 3–41% and 1–2% of familial and sporadic PD, respectively suggesting a pivotal role of LRRK2 in PD. In this report, we examine the association of the G2019S mutation with sporadic late-onset PD, in an independent cohort of Greek patients and controls.
References
- 1 Von Campenhausen S, Bornschein B, Wick R, et al. Prevalence and incidence of Parkinson's disease in Europe. European Neuropsychopharmacology 2005; 15: 473–490.
- 2 Benito-Leon J, Bermejo-Pareja F, Morales-Gonzalez JM, et al. Incidence of Parkinson disease and parkinsonism in three elderly populations of central Spain. Neurology 2004; 62: 734–741.
- 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. Annals of Neurology 2002; 51: 296–301.
- 4 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.
- 5 Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK-linked Parkinson's disease. Neuron 2004; 44: 595–600.
- 6 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. American Journal of Human Genetics 2005; 76: 672–680.
- 7 Lesage S, Durr A, Tazir M, et al. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. New England Journal of Medicine 2006; 354: 422–423.
- 8 Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. New England Journal of Medicine 2006; 354: 424–425.
- 9 Infante J, Rodriguez E, Combarros O, et al. LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease. Neuroscience Letters 2006; 395: 224–226.
- 10 Mata IF, Ross OA, Kachergus J, et al. LRRK2 mutations are a common cause of Parkinson's disease in Spain. European Journal of Neurology 2006; 13: 391–394.
- 11 Bras JM, Guerreiro RJ, Ribeiro MH, et al. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Movement Disorders 2005; 20: 1653–1655.
- 12 Goldwurm S, Di Fonzo 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. Journal of Medical Genetics 2005; 42: 65.
- 13 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 & Related Disorders 2006; 12: 410–419.
- 14 Marongiu R, Ghezzi D, Ialongo T, et al. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Movement Disorders 2006; 21: 1232–1235.
- 15 Squillaro T, Cambi F, Ciacci G, et al. Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease. Journal of Human Genetics 2007; 52: 201–204.
- 16 Spanaki C, Latsoudis H, Plaitakis A. LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP. Neurology 2006; 67: 1518–1519.
- 17 Xiromerisiou G, Hadjigeorgiou GM, Gourbali V, et al. Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. European Journal of Neurology 2007; 14: 7–11.
- 18 Tan EK, Shen H, Tan LC, et al. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neuroscience Letters 2005; 384: 327–329.
- 19 Lu CS, Simons EJ, Wu-Chou YH, et al. The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. Parkinsonism & Related Disorders 2005; 11: 521–522.
- 20 Fung HC, Chen CM, Hardy J, Hernandez D, Singleton A, Wu YR. Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Movement Disorders 2006; 21: 880–881.
- 21 Zabetian CP, Morino H, Ujike H, et al. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease. Neurology 2006; 67: 697–699.
- 22 Punia S, Behari M, Govindappa ST, et al. Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients. Neuroscience Letters 2006; 409: 83–88.
- 23 Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005; 365: 415–416.
- 24 Williams-Gray CH, Goris A, Foltynie T, et al. Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort. Journal of Neurology, Neurosurgery and Psychiatry 2006; 77: 665–667.
- 25 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 & Related Disorders 2005; 11: 349–352.
- 26 Belin A, Westerlund M, Sydow O, et al. Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian. Movement Disorders 2006; 21: 1731–1734.
- 27 Aasly JO, Toft M, Fernandez-Mata I, et al. Clinical features of LRRK2-associated Parkinson's disease in central Norway. Annals of Neurology 2005; 57: 762–765.
- 28 Pchelina SN, Yakimovskii AF, Ivanova ON, Emelianov AK, Zakharchuk AH, Schwarzman AL. G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia. Movement Disorders 2006; 21: 2234–2236.
- 29 Deng H, Le W, Guo Y, et al. Genetic analysis of LRRK2 mutations in patients with Parkinson disease. Journal of the Neurological Sciences 2006; 251: 102–106.
- 30 Kay DM, Zabetian CP, Factor SA, et al. Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. Movement Disorders 2006; 21: 519–523.
- 31 Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006; 67: 1786–1791.
- 32 Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. Journal of Neurology, Neurosurgery and Psychiatry 1992; 55: 181–184.
- 33 Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004; 44: 601–607.
- 34 BenMoyal-Segal L, Soreq H. Gene–environment interactions in sporadic Parkinson's disease. Journal of Neurochemistry 2006; 97: 1740–1755.
