Nová mutace v genu GIGYF2 u pacienta s Parkinsonovou chorobou

Autoři deklarují, že v souvislosti s předmětem studie nemají žádné komerční zájmy.

Redakční rada potvrzuje, že rukopis práce splnil ICMJE kritéria pro publikace zasílané do biomedicínských časopisů.

Autoři: J. Necpál ¹; R. Vodička ²;  p. Kaňovský ³
Působiště autorů: Department of Neurology, Hospital Zvolen, Slovak Republic ¹; Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, Czech Republic ²; Department of Neurology, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, Czech Republic ³
Vyšlo v časopise: Cesk Slov Neurol N 2017; 80(6): 719-721
Kategorie: Dopis redakci
prolekare.web.journal.doi_sk: https://doi.org/10.14735/amcsnn2017719

Souhrn

Zdroje

1. Payami H, Zareparsi S. Genetic epidemiologyof Parkinson’s disease. J Geriatr Psychiatry Neurol 1998;11(2):98 –⁠ 106. doi: 10.1177/ 089198879801100207.

2. Parkinson disease 23, autosomal recessive early-onset; PARK23. OMIM [accessed 2017 Jul 7]. Available from URL: https:/ / omim.org/ entry/ 616840.

3. Pankratz N, Nichols WC, Uniacke SK, et al. Genome screen to identify susceptibility genes for Parkinson disease in sample without parkin mutations. Am J HumGenet 2002;71(1):124 –⁠ 35. doi: 10.1086/ 341282.

4. Lautier C, Goldwurm S, Dürr A, et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK 11 locus in familial Parkinson disease. Am J Hum Genet 2008;82(4):822 –⁠ 33. doi: 10.1016/ j.ajhg.2008.01.015.

5. Nichols WC, Kissell DK, Pankratz N, et al. Variation in GIGYF2 is not associated with Parkinson disease. Neurology 2009;72(22):1886 –⁠ 92. doi: 10.1212/ 01.wnl.0000346517.98982.1b.

6. Sutherland GT, Siebert GA, Newman JR, et al. Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson’s disease. Mov Disord 2009;24(3):449 –⁠ 52. doi: 10.1002/ mds.22427.

7. Guella I, Pistocchi A, Asselta R, et al. Mutational screening and zebrafish functional analysis of GIGYF2as a Parkinson-disease gene. Neurobiol Aging 2011;32(11): 1994 –⁠ 2005. doi: 10.1016/ j.neurobiolaging.2009.12.016.

8. Samaranch L, Lorenzo E, Pastor MA, et al. Analysis of the GIGYF2 gene in familial and sporadic Parkinson disease on the Spanish population. Eur J Neurol 2010; 17(2):321 –⁠ 5. doi: 10.1111/ j.1468-1331.2009.02812.x.

9. Li L, Funayama M, Tomiyama H, et al. No evidence for pathologic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett 2010;479(3):245 –⁠ 8. doi: 10.1016/ j.neulet.2010.05.071.

10. Kalinderi K, Bostantjopoulou S, Fidani L. The genetic background of Parkinson’s disease: current progress and future prospects. Acta Neurol Scand 2016;134(5):314 –⁠ 26. doi: 10.1111/ ane.12563.