-
Je něco špatně v tomto záznamu ?
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder
K. Mufti, U. Rudakou, E. Yu, L. Krohn, JA. Ruskey, F. Asayesh, SB. Laurent, D. Spiegelman, I. Arnulf, MTM. Hu, JY. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, GL. Gigli, M. Valente, F. Janes, B. Högl, A. Stefani, E. Holzknecht, K....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
CIHR - Canada
Department of Health - United Kingdom
MR/L023784/1
Medical Research Council - United Kingdom
J-0901
Parkinson's UK - United Kingdom
MC_EX_MR/N50192X/1
Medical Research Council - United Kingdom
MR/M024962/1
Medical Research Council - United Kingdom
PubMed
33001463
DOI
10.1002/mds.28318
Knihovny.cz E-zdroje
- MeSH
- heterozygot MeSH
- lidé MeSH
- Parkinsonova nemoc * genetika MeSH
- parkinsonské poruchy * genetika MeSH
- porucha chování v REM spánku * genetika MeSH
- spánek MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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. © 2020 International Parkinson and Movement Disorder Society.
Clinical Neurology Unit Department of Neurosciences University Hospital of Udine Udine Italy
Department of Human Genetics McGill University Montréal Québec Canada
Department of Medicine University of Udine Udine Italy
Department of Neurological Sciences Università Vita Salute San Raffaele Milan Italy
Department of Neurology and Neurosurgery McGill University Montréal Québec Canada
Department of Neurology Mayo Clinic Rochester Minnesota USA
Department of Neurology Philipps University Marburg Germany
Department of Neurology St Dimpna Regional Hospital Geel Belgium
Department of Neurology University Hospital Antwerp Edegem Belgium
Department of Neurology University Medical Centre Göttingen Göttingen Germany
Department of Neurosciences Université de Montréal Montréal Québec Canada
Department of Psychiatry Université de Montréal Montréal Québec Canada
Department of Psychology Université du Québec à Montréal Montréal Québec Canada
Department of Sleep Medicine and Neuromuscular Disorders University of Müenster Müenster Germany
EuroMov University of Montpellier Montpellier France
IRCCS Institute of Neurological Sciences of Bologna Bologna Italy
Laboratory for Sleep Disorders St Dimpna Regional Hospital Geel Belgium
Montreal Neurological Institute McGill University Montréal Québec Canada
Nuffield Department of Clinical Neurosciences University of Oxford Oxford United Kingdom
Oxford Parkinson's Disease Centre University of Oxford Oxford United Kingdom
Paracelsus Elena Klinik Kassel Germany
Sleep and Neurology Unit Beau Soleil Clinic Montpellier France
Sleep Disorder Unit Carémeau Hospital University Hospital of Nîmes Nîmes France
Sleep Disorders Clinic Department of Neurology Medical University of Innsbruck Innsbruck Austria
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc21019582
- 003
- CZ-PrNML
- 005
- 20210830101156.0
- 007
- ta
- 008
- 210728s2021 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1002/mds.28318 $2 doi
- 035 __
- $a (PubMed)33001463
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Mufti, Kheireddin $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada
- 245 10
- $a Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder / $c K. Mufti, U. Rudakou, E. Yu, L. Krohn, JA. Ruskey, F. Asayesh, SB. Laurent, D. Spiegelman, I. Arnulf, MTM. Hu, JY. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, GL. Gigli, M. Valente, F. Janes, B. Högl, A. Stefani, E. Holzknecht, K. Šonka, D. Kemlink, W. Oertel, A. Janzen, G. Plazzi, E. Antelmi, M. Figorilli, M. Puligheddu, B. Mollenhauer, C. Trenkwalder, F. Sixel-Döring, V. Cochen De Cock, CC. Monaca, A. Heidbreder, L. Ferini-Strambi, F. Dijkstra, M. Viaene, B. Abril, BF. Boeve, RB. Postuma, GA. Rouleau, Z. Gan-Or
- 520 9_
- $a 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. © 2020 International Parkinson and Movement Disorder Society.
- 650 _2
- $a heterozygot $7 D006579
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a Parkinsonova nemoc $x genetika $7 D010300
- 650 12
- $a parkinsonské poruchy $x genetika $7 D020734
- 650 12
- $a porucha chování v REM spánku $x genetika $7 D020187
- 650 _2
- $a spánek $7 D012890
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Rudakou, Uladzislau $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Yu, Eric $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Krohn, Lynne $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Ruskey, Jennifer A $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Asayesh, Farnaz $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Laurent, Sandra B $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Spiegelman, Dan $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Arnulf, Isabelle $u Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne University, Paris, France
- 700 1_
- $a Hu, Michele T M $u Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, United Kingdom $u Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
- 700 1_
- $a Montplaisir, Jacques Y $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada $u Department of Psychiatry, Université de Montréal, Montréal, Québec, Canada
- 700 1_
- $a Gagnon, Jean-François $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada $u Department of Psychology, Université du Québec à Montréal, Montréal, Québec, Canada
- 700 1_
- $a Desautels, Alex $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada $u Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada
- 700 1_
- $a Dauvilliers, Yves $u National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France
- 700 1_
- $a Gigli, Gian Luigi $u Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy $u Department of Medicine, University of Udine, Udine, Italy
- 700 1_
- $a Valente, Mariarosaria $u Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy $u Department of Medicine (DAME), University of Udine, Udine, Italy
- 700 1_
- $a Janes, Francesco $u Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy
- 700 1_
- $a Högl, Birgit $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Stefani, Ambra $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Holzknecht, Evi $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Šonka, Karel $u Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
- 700 1_
- $a Kemlink, David $u Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
- 700 1_
- $a Oertel, Wolfgang $u Department of Neurology, Philipps University, Marburg, Germany
- 700 1_
- $a Janzen, Annette $u Department of Neurology, Philipps University, Marburg, Germany
- 700 1_
- $a Plazzi, Giuseppe $u Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy $u IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy
- 700 1_
- $a Antelmi, Elena $u Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy $u Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
- 700 1_
- $a Figorilli, Michela $u Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy
- 700 1_
- $a Puligheddu, Monica $u Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy
- 700 1_
- $a Mollenhauer, Brit $u Paracelsus-Elena-Klinik, Kassel, Germany $u Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany
- 700 1_
- $a Trenkwalder, Claudia $u Paracelsus-Elena-Klinik, Kassel, Germany $u Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany
- 700 1_
- $a Sixel-Döring, Friederike $u Department of Neurology, Philipps University, Marburg, Germany $u Paracelsus-Elena-Klinik, Kassel, Germany
- 700 1_
- $a Cochen De Cock, Valérie $u Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France $u EuroMov, University of Montpellier, Montpellier, France
- 700 1_
- $a Monaca, Christelle Charley $u Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France
- 700 1_
- $a Heidbreder, Anna $u Department of Sleep Medicine and Neuromuscular Disorders, University of Müenster, Müenster, Germany
- 700 1_
- $a Ferini-Strambi, Luigi $u Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy
- 700 1_
- $a Dijkstra, Femke $u Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium $u Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium $u Department of Neurology, University Hospital Antwerp, Edegem, Belgium
- 700 1_
- $a Viaene, Mineke $u Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium $u Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium
- 700 1_
- $a Abril, Beatriz $u Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France
- 700 1_
- $a Boeve, Bradley F $u Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
- 700 1_
- $a Postuma, Ronald B $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada
- 700 1_
- $a Rouleau, Guy A $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 700 1_
- $a Gan-Or, Ziv $u Department of Human Genetics, McGill University, Montréal, Québec, Canada $u Montreal Neurological Institute, McGill University, Montréal, Québec, Canada $u Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
- 773 0_
- $w MED00003420 $t Movement disorders : official journal of the Movement Disorder Society $x 1531-8257 $g Roč. 36, č. 1 (2021), s. 235-240
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/33001463 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20210728 $b ABA008
- 991 __
- $a 20210830101156 $b ABA008
- 999 __
- $a ok $b bmc $g 1690420 $s 1140028
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 36 $c 1 $d 235-240 $e 20201001 $i 1531-8257 $m Movement disorders $n Mov Disord $x MED00003420
- GRA __
- $p CIHR $2 Canada
- GRA __
- $p Department of Health $2 United Kingdom
- GRA __
- $a MR/L023784/1 $p Medical Research Council $2 United Kingdom
- GRA __
- $a J-0901 $p Parkinson's UK $2 United Kingdom
- GRA __
- $a MC_EX_MR/N50192X/1 $p Medical Research Council $2 United Kingdom
- GRA __
- $a MR/M024962/1 $p Medical Research Council $2 United Kingdom
- LZP __
- $a Pubmed-20210728
