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Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

Artikel i vetenskaplig tidskrift
Författare Andreas Puschmann
Itzia Jiménez-Ferrer
Elin Lundblad-Andersson
Emma Mårtensson
Oskar Hansson
Per Odin
Håkan Widner
Kajsa Brolin
Ropafadzo Mzezewa
Jonas Kristensen
Maria Soller
Emil Ygland Rödström
Owen A. Ross
Mathias Toft
Guido J. Breedveld
Vincenzo Bonifati
Lovisa Brodin
Anna Zettergren
Olof Sydow
Jan Linder
Karin Wirdefeldt
Per Svenningsson
Hans Nissbrandt
Andrea Carmine Belin
Lars Forsgren
Maria Swanberg
Publicerad i Parkinsonism and Related Disorders
Volym 66
Sidor 158-165
ISSN 1353-8020
Publiceringsår 2019
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Sidor 158-165
Språk en
Länkar doi.org/10.1016/j.parkreldis.2019.0...
Ämneskategorier Neurovetenskaper

Sammanfattning

© 2019 The Authors Objective: To determine the frequency of mutations known to cause autosomal dominant Parkinson disease (PD) in a series with more than 10% of Sweden's estimated number of PD patients. Methods: The Swedish Parkinson Disease Genetics Network was formed as a national multicenter consortium of clinical researchers who together have access to DNA from a total of 2,206 PD patients; 85.4% were from population-based studies. Samples were analyzed centrally for known pathogenic mutations in SNCA (duplications/triplications, p.Ala30Pro, p.Ala53Thr) and LRRK2 (p.Asn1437His, p.Arg1441His, p.Tyr1699Cys, p.Gly2019Ser, p.Ile2020Thr). We compared the frequency of these mutations in Swedish patients with published PD series and the gnomAD database. Results: A family history of PD in first- and/or second-degree relatives was reported by 21.6% of participants. Twelve patients (0.54%) carried LRRK2 p.(Gly2019Ser) mutations, one patient (0.045%) an SNCA duplication. The frequency of LRRK2 p.(Gly2019Ser) carriers was 0.11% in a matched Swedish control cohort and a similar 0.098% in total gnomAD, but there was a marked difference between ethnicities in gnomAD, with 42-fold higher frequency among Ashkenazi Jews than all others combined. Conclusions: In relative terms, the LRRK2 p.(Gly2019Ser) variant is the most frequent mutation among Swedish or international PD patients, and in gnomAD. SNCA duplications were the second most common of the mutations examined. In absolute terms, however, these known pathogenic variants in dominant PD genes are generally very rare and can only explain a minute fraction of familial aggregation of PD. Additional genetic and environmental mechanisms may explain the frequent co-occurrence of PD in close relatives.

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