NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts

被引：2

作者：

Somerville, Emma N. ^{[1
,2
]}

Krohn, Lynne ^{[1
,2
]}

Yu, Eric ^{[1
,2
]}

Rudakou, Uladzislau ^{[1
,2
]}

Senkevich, Konstantin ^{[1
,3
]}

Ruskey, Jennifer A. ^{[1
,3
]}

Asayesh, Farnaz ^{[1
,3
]}

Ahmad, Jamil ^{[1
,3
]}

Spiegelman, Dan ^{[1
,3
]}

Dauvilliers, Yves ^{[4
]}

Arnulf, Isabelle ^{[5
]}

Hu, Michele T. M. ^{[6
]}

Montplaisir, Jacques Y. ^{[7
,8
]}

Gagnon, Jean-Francois ^{[7
,9
]}

Desautels, Alex ^{[7
,10
]}

Ibrahim, Abubaker ^{[11
]}

Stefani, Ambra ^{[11
]}

Hoegl, Birgit ^{[11
]}

Gigli, Gian Luigi ^{[12
,13
]}

Valente, Mariarosaria ^{[12
,13
]}

Janes, Francesco ^{[12
]}

Bernardini, Andrea ^{[12
]}

Dusek, Petr ^{[14
,15
,16
]}

Sonka, Karel ^{[14
,15
,16
]}

Kemlink, David ^{[14
,15
,16
]}

Plazzi, Giuseppe ^{[17
,18
]}

Antelmi, Elena ^{[18
,19
]}

Biscarini, Francesco ^{[20
]}

Mollenhauer, Brit ^{[21
,22
]}

Trenkwalder, Claudia ^{[21
,22
]}

Sixel-Doring, Friederike ^{[22
,23
]}

Figorilli, Michela ^{[24
]}

Puligheddu, Monica ^{[24
]}

De Cock, Valerie Cochen ^{[25
,26
]}

Oertel, Wolfgang ^{[23
]}

Janzen, Annette ^{[23
]}

Ferini-Strambi, Luigi ^{[27
]}

Heibreder, Anna ^{[11
,28
]}

Monaca, Christelle Charley ^{[29
,30
]}

Abril, Beatriz ^{[31
]}

Dijkstra, Femke ^{[32
,33
,34
]}

Viaene, Mineke ^{[32
,33
]}

Boeve, Bradley F. ^{[35
]}

Postuma, Ronald B. ^{[1
,3
,7
]}

Rouleau, Guy A. ^{[1
,2
,3
]}

Gan-Or, Ziv ^{[1
,2
,3
]}

机构：

[1] McGill Univ, Neuro Montreal Neurol Inst Hosp, Montreal, PQ, Canada

[2] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[3] McGill Univ, Dept Neurol & Neurosurg, 1033 Pine Ave West,Ludmer Pavil,Room 312, Montreal, PQ H3A 1A1, Canada

[4] Univ Montpellier, CHU Montpellier,INSERM, Inst Neurosci Montpellier INM,Natl Reference Ctr, Dept Neurol,Narcolepsy Rare Hypersomnias Sleep Un, Montpellier, France

[5] Sorbonne Univ, Hop Pitie Salpetriere, AP HP, CNRS,Inserm,Inst Cerveau,Paris Brain Inst ICM,Sle, Paris, France

[6] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England

[7] Hop Sacre Coeur Montreal, Ctr Etud Avancees Med Sommeil, Montreal, PQ, Canada

[8] Univ Montreal, Dept Psychiat, Montreal, PQ, Canada

[9] Univ Quebec Montreal, Dept Psychol, Montreal, PQ, Canada

[10] Univ Montreal, Dept Neurosci, Montreal, PQ, Canada

[11] Med Univ Innsbruck, Dept Neurol, Sleep Disorders Clin, Innsbruck, Austria

[12] Univ Hosp Udine, Dept Neurosci, Clin Neurol Unit, Udine, Italy

[13] Univ Udine, Dept Med DAME, Udine, Italy

[14] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

[15] Charles Univ Prague, Fac Med 1, Ctr Clin Neurosci, Prague, Czech Republic

[16] Gen Univ Hosp, Prague, Czech Republic

[17] Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, Italy

[18] IRCCS, Inst Neurol Sci Bologna, Bologna, Italy

[19] Univ Verona, Dept Neurosci, Movement Disorders Div, Neurol Unit,Biomed & Movement Sci, Verona, Italy

[20] Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Alma Mater Studiorum, Bologna, Italy

[21] Univ Med Ctr Gottingen, Dept Neurol, Gottingen, Germany

[22] Paracelsus Elena Klin, Kassel, Germany

[23] Philipps Univ, Dept Neurol, Marburg, Germany

[24] Univ Cagliari, Sleep Disorder Res Ctr, Dept Med Sci & Publ Hlth, Cagliari, Italy

[25] Beau Soleil Clin, Sleep & Neurol Unit, Montpellier, France

[26] Univ Montpellier, EuroMov, Montpellier, France

[27] Univ Vita Salute San Raffaele, Dept Neurol Sci, Milan, Italy

[28] Univ Munster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany

[29] Univ Lille North France, CHU Lille, Dept Clin Neurophysiol, Lille, France

[30] Univ Lille North France, CHU Lille, Sleep Ctr, Lille, France

[31] Univ Hosp Nimes, Caremeau Hosp, Sleep Disorder Unit, Nimes, France

[32] St Dimpna Reg Hosp, Lab Sleep Disorders, Geel, Belgium

[33] St Dimpna Reg Hosp, Dept Neurol, Geel, Belgium

[34] Univ Hosp Antwerp, Dept Neurol, Antwerp, Belgium

[35] Mayo Clin, Dept Neurol, Rochester, MN USA

来源：

NEUROBIOLOGY OF AGING | 2023年 / 127卷

基金：

加拿大健康研究院; 美国国家卫生研究院;

关键词：

REM-sleep behavior disorder; Parkinson's disease; Dementia with Lewy bodies; NPC1; Niemann-Pick disease type C; Association study; IDENTIFICATION; INSIGHTS;

D O I：

10.1016/j.neurobiolaging.2023.03.002

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

NPC1 encodes a lysosomal protein involved in cholesterol transport. Biallelic mutations in this gene may lead to Niemann-Pick disease type C (NPC), a lysosomal storage disorder. The role of NPC1 in alpha synuclei-nopathies is still unclear, as different genetic, clinical, and pathological studies have reported contradictory results. This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinson's disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement-sleep behavior disorder (RBD). We analyzed common and rare variants from 3 cohorts of European descent: 1084 RBD cases and 2945 controls, 2852 PD cases and 1686 controls, and 2610 DLB cases and 1920 controls. Logistic regression models were used to assess common variants while optimal sequence Kernel association tests were used to assess rare variants, both adjusted for sex, age, and principal components. No variants were associated with any of the synucleinopathies, supporting that common and rare NPC1 variants do not play an important role in alpha synucleinopathies.(c) 2023 Elsevier Inc. All rights reserved.

引用

页码：94 / 98

页数：5

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