-
Je něco špatně v tomto záznamu ?
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
I. Dzinovic, S. Boesch, M. Škorvánek, J. Necpál, J. Švantnerová, P. Pavelekova, P. Havránková, E. Tsoma, E. Indelicato, E. Runkel, V. Held, D. Weise, W. Janzarik, M. Eckenweiler, S. Berweck, V. Mall, B. Haslinger, R. Jech, J. Winkelmann, M. Zech
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
- MeSH
- ataxie genetika MeSH
- dystonické poruchy * diagnóza genetika MeSH
- dystonie * diagnóza genetika MeSH
- exom MeSH
- fenotyp MeSH
- lidé MeSH
- mutace MeSH
- parkinsonské poruchy * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative variants in genes associated with disease categories other than dystonia. METHODS: Gene findings related to whole-exome sequencing-derived diagnoses in 1100 dystonia index cases were compared with expert-curated molecular testing panels for ataxia, parkinsonism, spastic paraplegia, neuropathy, epilepsy, and intellectual disability. RESULTS: Among 220 diagnosed patients, 21% had variants in ataxia-linked genes; 15% in parkinsonism-linked genes; 15% in spastic-paraplegia-linked genes; 12% in neuropathy-linked genes; 32% in epilepsy-linked genes; and 65% in intellectual-disability-linked genes. Most diagnosed presentations (80%) were related to genes listed in ≥1 studied panel; 71% of the involved loci were found in the non-dystonia panels but not in an expert-curated gene list for dystonia. CONCLUSIONS: Our study indicates a convergence in the genetics of dystonia and other neurologic phenotypes, informing diagnostic evaluation strategies and pathophysiological considerations.
Department of Neurology Medical Faculty Mannheim Heidelberg University Mannheim Germany
Department of Neurology Medical University of Innsbruck Innsbruck Austria
Department of Neurology P J Safarik University Kosice Slovak Republic
Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic
Department of Neurology University of Leipzig Leipzig Germany
Department of Neurology Zvolen Hospital Slovakia
Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany
Institute of Neurogenomics Helmholtz Zentrum München Munich Germany
kbo Kinderzentrum München Munich Germany
Klinik für Neurologie Asklepios Fachklinikum Stadtroda Stadtroda Germany
Klinikum Aschaffenburg Alzenau Aschaffenburg Germany
Lehrstuhl für Neurogenetik Technische Universität München Munich Germany
Lehrstuhl für Sozialpädiatrie Technische Universität München Munich Germany
Ludwig Maximilian University of Munich Munich Germany
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22024664
- 003
- CZ-PrNML
- 005
- 20221031100126.0
- 007
- ta
- 008
- 221017s2022 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.parkreldis.2022.07.003 $2 doi
- 035 __
- $a (PubMed)35872528
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Dzinovic, Ivana $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany
- 245 10
- $a Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes / $c I. Dzinovic, S. Boesch, M. Škorvánek, J. Necpál, J. Švantnerová, P. Pavelekova, P. Havránková, E. Tsoma, E. Indelicato, E. Runkel, V. Held, D. Weise, W. Janzarik, M. Eckenweiler, S. Berweck, V. Mall, B. Haslinger, R. Jech, J. Winkelmann, M. Zech
- 520 9_
- $a INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative variants in genes associated with disease categories other than dystonia. METHODS: Gene findings related to whole-exome sequencing-derived diagnoses in 1100 dystonia index cases were compared with expert-curated molecular testing panels for ataxia, parkinsonism, spastic paraplegia, neuropathy, epilepsy, and intellectual disability. RESULTS: Among 220 diagnosed patients, 21% had variants in ataxia-linked genes; 15% in parkinsonism-linked genes; 15% in spastic-paraplegia-linked genes; 12% in neuropathy-linked genes; 32% in epilepsy-linked genes; and 65% in intellectual-disability-linked genes. Most diagnosed presentations (80%) were related to genes listed in ≥1 studied panel; 71% of the involved loci were found in the non-dystonia panels but not in an expert-curated gene list for dystonia. CONCLUSIONS: Our study indicates a convergence in the genetics of dystonia and other neurologic phenotypes, informing diagnostic evaluation strategies and pathophysiological considerations.
- 650 _2
- $a ataxie $x genetika $7 D001259
- 650 12
- $a dystonie $x diagnóza $x genetika $7 D004421
- 650 12
- $a dystonické poruchy $x diagnóza $x genetika $7 D020821
- 650 _2
- $a exom $7 D059472
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mutace $7 D009154
- 650 12
- $a parkinsonské poruchy $x genetika $7 D020734
- 650 _2
- $a fenotyp $7 D010641
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Boesch, Sylvia $u Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Škorvánek, Matej $u Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic
- 700 1_
- $a Necpál, Ján $u Department of Neurology, Zvolen Hospital, Slovakia
- 700 1_
- $a Švantnerová, Jana $u Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia
- 700 1_
- $a Pavelekova, Petra $u Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic
- 700 1_
- $a Havránková, Petra $u Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic
- 700 1_
- $a Tsoma, Eugenia $u Regional Clinical Center of Neurosurgery and Neurology, Department of Family Medicine and Outpatient Care, Uzhhorod National University, Uzhhorod, Ukraine
- 700 1_
- $a Indelicato, Elisabetta $u Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Runkel, Eva $u Klinikum Aschaffenburg-Alzenau, Aschaffenburg, Germany
- 700 1_
- $a Held, Valentin $u Department of Neurology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
- 700 1_
- $a Weise, David $u Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany; Department of Neurology, University of Leipzig, Leipzig, Germany
- 700 1_
- $a Janzarik, Wibke $u Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Germany
- 700 1_
- $a Eckenweiler, Matthias $u Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Germany
- 700 1_
- $a Berweck, Steffen $u Ludwig Maximilian University of Munich, Munich, Germany; Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany
- 700 1_
- $a Mall, Volker $u Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany; kbo-Kinderzentrum München, Munich, Germany
- 700 1_
- $a Haslinger, Bernhard $u Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany
- 700 1_
- $a Jech, Robert $u Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic
- 700 1_
- $a Winkelmann, Juliane $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
- 700 1_
- $a Zech, Michael $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. Electronic address: michael.zech@mri.tum.de
- 773 0_
- $w MED00006198 $t Parkinsonism & related disorders $x 1873-5126 $g Roč. 102, č. - (2022), s. 1-6
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/35872528 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20221017 $b ABA008
- 991 __
- $a 20221031100124 $b ABA008
- 999 __
- $a ok $b bmc $g 1854413 $s 1175954
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2022 $b 102 $c - $d 1-6 $e 20220718 $i 1873-5126 $m Parkinsonism & related disorders $n Parkinsonism Relat Disord $x MED00006198
- LZP __
- $a Pubmed-20221017
