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Year 2014, , 1 - 4, 01.04.2014

Aslan H

https://doi.org/10.18521/ktd.29871
Cited By: 2

Abstract

Objective: Recently understanding genetic forms and pathogenic mutations etiopathogenesis of Parkinson’s disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson’s disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson’s disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson’s disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson’s disease

Keywords

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References

  • Bodis-Wolner I. Neuropsychological and perceptual defects in Parkinson's disease. Parkinsonism & Related Disorders 2003;9(2): 83-9.
  • Litva I, Bhatia KP, Burn DJ, et al. Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord 2003;18(5):467-86.
  • Seidler A, Hellenbrand W, Robra BP, et al. Possible environmental, occupational, and other etiologic factors for Parkinson’s disease: a case-control study in Germany. Neurology 1996;46(5):1275-84.
  • Factor SA, Weiner WJ. Prior history of head trauma in Parkinson’s disease. Mov Disord 1991;6(3):225-9.
  • Elbaz A, Bower JH, Maraganore DM. Risk Tables for Parkinsonism and Parkison’s disease. J Clin Epidemiol 2002;55(1):25-31.
  • Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44(4):601-7.
  • 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(4):595-600.
  • 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(7):583-600.
  • 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(3):327-9.
  • Okubadejo N, Britton A, Crews C, et al. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. pLoS ONE 2008;3(10):e3421. Published online 2008 October 17. doi: 10.1371/journal.pone.0003421.
  • 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. Eur J Neurol 2007;14(1):7-11.
  • Bialecka M, Hui S, Klodowska-Duda G, et al. Analysis of LRRK2 G2019S and I2020T mutations in Parkinson’s disease. Neurosci Lett 2005;390(1):1-3.
  • Möller JC, Risling I, Mylius V, et al. The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson’s disease. Eur J. Neurol 2008;15(7):743-5.
  • Lesage S, Dürr A, Tazir M, et al. LRRK2 G2019S as a cause of Parkinson’s disease in North African Arabs. N Engl J Med 2006;354(4):422-3.
  • 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(16):1595-602.
  • Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson’s disease. Neurology 2001;57(8):1497-9.
  • Lesage S, Brice A. Parkinson’s disease: from monogenic forms to genetic susceptibility factors. Hum Mol Gen 2009;18(R1):48-59.
  • Punia S, Behari M, Govindappa ST, et al. Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson’s disease patients. Neurosci Lett 2006;409(2): 83-8.
  • Squillaro T, Cambi F, Ciacci G, et al. Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson’s disease. J Hum Genet. 2007 52(3):201-204.
  • Vijayan B, Gopala S, Kishore A. LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India. Neurol India. 2011;59(2):157-60.
  • Fung HC, Chen CM, Hardy J, et al. A common genetic factor for Parkinson diseasein ethnic Chinese population in Taiwan. BMC Neurology 2006;6:47. Published online 2006 December 22. doi: 10.1186/1471- 2377-6-47
  • Pirkevi C, Lesage S, Condroyer C, et al. A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype. Neurogenetics 2009;10(3):271–3.

Türkiye'de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması

Year 2014, , 1 - 4, 01.04.2014

Aslan H

https://doi.org/10.18521/ktd.29871
Cited By: 2

Abstract

Amaç: Son yıllarda genetik formlarının ve patojenik mutasyonların tanımlanması ile Parkinson Hastalığının etiyopatogenezine ilişkin bilgiler artmıştır. LRRK2 geni G2019S mutasyonu otozomal dominant ve sporadik Parkinson Hastalığında en sık bildirilen nokta mutasyonudur. Çalışmamızın amacı; Eskişehir bölgesinde sporadik geç başlangıçlı Parkinson Hastalığı tanısı alan olgulardaki LRRK2 genindeki G2019S mutasyonlarının sıklığının belirlenmesi, tanısal amaçlı kullanılabilirliği ve ayrıca mutasyon saptanan olgulara hastalığı ve mutasyonu ile ilgili genetik danışmanın verilmesi amaçlanmıştır. Yöntem: Çalışmamızda sporadik Parkinson Hastalığı tanısı almış 83 olgu ve 50 normal sağlıklı kontrol bireyi incelenmiştir. LRRK2 geni 41. ekzonu DNA dizileme yöntemi ile çalışılmıştır. Bulgular: Ne hastalarda ne de kontrol grubunda herhangi bir nokta mutasyon ya da polimorfizm saptanmamıştır. Sonuç: Çalışmamız, LRRK2 geni G2019S mutasyonunun bölgemizdeki sporadik Parkinson Hastalığı tanısı alan olgulardaki sıklığının çok düşük olduğunu göstermektedir

Keywords

G2019S LRRK2 Parkinson Hastalığı

References

  • Bodis-Wolner I. Neuropsychological and perceptual defects in Parkinson's disease. Parkinsonism & Related Disorders 2003;9(2): 83-9.
  • Litva I, Bhatia KP, Burn DJ, et al. Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord 2003;18(5):467-86.
  • Seidler A, Hellenbrand W, Robra BP, et al. Possible environmental, occupational, and other etiologic factors for Parkinson’s disease: a case-control study in Germany. Neurology 1996;46(5):1275-84.
  • Factor SA, Weiner WJ. Prior history of head trauma in Parkinson’s disease. Mov Disord 1991;6(3):225-9.
  • Elbaz A, Bower JH, Maraganore DM. Risk Tables for Parkinsonism and Parkison’s disease. J Clin Epidemiol 2002;55(1):25-31.
  • Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44(4):601-7.
  • 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(4):595-600.
  • 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(7):583-600.
  • 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(3):327-9.
  • Okubadejo N, Britton A, Crews C, et al. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. pLoS ONE 2008;3(10):e3421. Published online 2008 October 17. doi: 10.1371/journal.pone.0003421.
  • 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. Eur J Neurol 2007;14(1):7-11.
  • Bialecka M, Hui S, Klodowska-Duda G, et al. Analysis of LRRK2 G2019S and I2020T mutations in Parkinson’s disease. Neurosci Lett 2005;390(1):1-3.
  • Möller JC, Risling I, Mylius V, et al. The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson’s disease. Eur J. Neurol 2008;15(7):743-5.
  • Lesage S, Dürr A, Tazir M, et al. LRRK2 G2019S as a cause of Parkinson’s disease in North African Arabs. N Engl J Med 2006;354(4):422-3.
  • 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(16):1595-602.
  • Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson’s disease. Neurology 2001;57(8):1497-9.
  • Lesage S, Brice A. Parkinson’s disease: from monogenic forms to genetic susceptibility factors. Hum Mol Gen 2009;18(R1):48-59.
  • Punia S, Behari M, Govindappa ST, et al. Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson’s disease patients. Neurosci Lett 2006;409(2): 83-8.
  • Squillaro T, Cambi F, Ciacci G, et al. Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson’s disease. J Hum Genet. 2007 52(3):201-204.
  • Vijayan B, Gopala S, Kishore A. LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India. Neurol India. 2011;59(2):157-60.
  • Fung HC, Chen CM, Hardy J, et al. A common genetic factor for Parkinson diseasein ethnic Chinese population in Taiwan. BMC Neurology 2006;6:47. Published online 2006 December 22. doi: 10.1186/1471- 2377-6-47
  • Pirkevi C, Lesage S, Condroyer C, et al. A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype. Neurogenetics 2009;10(3):271–3.
There are 22 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Aslan H This is me

Publication Date April 1, 2014
Published in Issue Year 2014

Cite

APA H, A. (2014). Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması. Konuralp Medical Journal, 6(1), 1-4. https://doi.org/10.18521/ktd.29871
AMA H A. Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması. Konuralp Medical Journal. April 2014;6(1):1-4. doi:10.18521/ktd.29871
Chicago H, Aslan. “Türkiye’de Sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması”. Konuralp Medical Journal 6, no. 1 (April 2014): 1-4. https://doi.org/10.18521/ktd.29871.
EndNote H A (April 1, 2014) Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması. Konuralp Medical Journal 6 1 1–4.
IEEE A. H, “Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması”, Konuralp Medical Journal, vol. 6, no. 1, pp. 1–4, 2014, doi: 10.18521/ktd.29871.
ISNAD H, Aslan. “Türkiye’de Sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması”. Konuralp Medical Journal 6/1 (April 2014), 1-4. https://doi.org/10.18521/ktd.29871.
JAMA H A. Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması. Konuralp Medical Journal. 2014;6:1–4.
MLA H, Aslan. “Türkiye’de Sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması”. Konuralp Medical Journal, vol. 6, no. 1, 2014, pp. 1-4, doi:10.18521/ktd.29871.
Vancouver H A. Türkiye’de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması. Konuralp Medical Journal. 2014;6(1):1-4.

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