TY - JOUR
T1 - Genetics of Parkinson's disease in the Polish population
AU - Milanowski, Lukasz M.
AU - Ross, Owen A.
AU - Friedman, Andrzej
AU - Hoffman-Zacharska, Dorota
AU - Gorka-Skoczylas, Paulina
AU - Jurek, Marta
AU - Koziorowski, Dariusz
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
Mayo Clinic is an American Parkinson's Disease Association (APDA) Information and Referral Centre and APDA Centre for Advanced Research, as well as a Lewy Body Dementia Association Research Centre of Excellence. This study was supported financially as part of the research grant from the National Science Centre in Poland (grant number: 2017/01/X/NZ4/01450).
Funding Information:
Acknowledgments: Mayo Clinic is an American Parkinson’s Disease Association (APDA) Information and Referral Centre and APDA Centre for Advanced Research, as well as a Lewy Body Dementia Association Research Centre of Excellence. This study was supported financially as part of the research grant from the National Science Centre in Poland (grant number: 2017/01/X/NZ4/01450). Conflict of interest: Dr Milanowski is supported by the Polish National Agency for Academic Exchange Iwanowska’s Fellowship PPN/IWA/2018/1/00006/U/00001/01, the APDA, and the Haworth Family Professorship in Neurodegenerative Diseases Fund. Dr Ross is supported by the National Institutes of Health (NIH; R01 NS78086; U54 NS100693; U54 NS110435), the US Department of Defense (W81XWH-17-1-0249), the Little Family Foundation, the Mayo Clinic Functional Genomics of LBD Programme, the Mayo Clinic Centre for Individualised Medicine, and the Michael J. Fox Foundation. Dr Wszolek is partially supported by the Mayo Clinic Centre for Regenerative Medicine, gifts from the Sol Goldman Charitable Trust and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases Fund, and the Albertson Parkinson’s Research Foundation. He serves as PI or Co-PI on grants from Biogen, Inc (228PD201) and Biohaven Pharmaceuticals, Inc (BHV4157-206 and BHV3241-301). He serves as PI of the Mayo Clinic APDA Information and Referral Centre, and as Co-PI of the Mayo Clinic APDA Centre for Advanced Research.
Publisher Copyright:
Copyright © 2021 Polish Neurological Society.
PY - 2021/6/30
Y1 - 2021/6/30
N2 - Introduction. Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication. Methodology. We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish', 'genetics', 'mutations', and 'variants'. Results. In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. Conclusion. Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.
AB - Introduction. Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication. Methodology. We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish', 'genetics', 'mutations', and 'variants'. Results. In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. Conclusion. Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.
KW - Genetics
KW - Parkinson's disease
KW - Polish population
KW - SNCA duplication
UR - http://www.scopus.com/inward/record.url?scp=85109896956&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85109896956&partnerID=8YFLogxK
U2 - 10.5603/PJNNS.A2021.0013
DO - 10.5603/PJNNS.A2021.0013
M3 - Review article
C2 - 33539026
AN - SCOPUS:85109896956
SN - 0028-3843
VL - 55
SP - 241
EP - 252
JO - Neurologia i neurochirurgia polska
JF - Neurologia i neurochirurgia polska
IS - 3
ER -