Nová mutace v genu GIGYF2 u pacienta s Parkinsonovou chorobou

English version

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
doi: https://doi.org/10.14735/amcsnn2017719

Souhrn

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.

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.