TY - JOUR
T1 - Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder
AU - Mufti, Kheireddin
AU - Rudakou, Uladzislau
AU - Yu, Eric
AU - Krohn, Lynne
AU - Ruskey, Jennifer A.
AU - Asayesh, Farnaz
AU - Laurent, Sandra B.
AU - Spiegelman, Dan
AU - Arnulf, Isabelle
AU - Hu, Michele T.M.
AU - Montplaisir, Jacques Y.
AU - Gagnon, Jean François
AU - Desautels, Alex
AU - Dauvilliers, Yves
AU - Gigli, Gian Luigi
AU - Valente, Mariarosaria
AU - Janes, Francesco
AU - Högl, Birgit
AU - Stefani, Ambra
AU - Holzknecht, Evi
AU - Šonka, Karel
AU - Kemlink, David
AU - Oertel, Wolfgang
AU - Janzen, Annette
AU - Plazzi, Giuseppe
AU - Antelmi, Elena
AU - Figorilli, Michela
AU - Puligheddu, Monica
AU - Mollenhauer, Brit
AU - Trenkwalder, Claudia
AU - Sixel-Döring, Friederike
AU - Cochen De Cock, Valérie
AU - Monaca, Christelle Charley
AU - Heidbreder, Anna
AU - Ferini-Strambi, Luigi
AU - Dijkstra, Femke
AU - Viaene, Mineke
AU - Abril, Beatriz
AU - Boeve, Bradley F.
AU - Postuma, Ronald B.
AU - Rouleau, Guy A.
AU - Gan-Or, Ziv
N1 - Ricercatore distaccato presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Plazzi Giuseppe)
PY - 2021/1
Y1 - 2021/1
N2 - Background: There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD). Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. Methods: Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests. Results: We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls. Conclusion: Our results do not support a major role for variants in these genes in the risk of iRBD.
AB - Background: There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD). Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. Methods: Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests. Results: We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls. Conclusion: Our results do not support a major role for variants in these genes in the risk of iRBD.
KW - REM sleep behavior disorder; genetic analysis; Parkinson's disease
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U2 - 10.1002/mds.28318
DO - 10.1002/mds.28318
M3 - Article
C2 - 33001463
AN - SCOPUS:85091797307
VL - 36
SP - 235
EP - 240
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 1
ER -