PMID- 27079681
DCOM- 20170117
LR  - 20180426
IS  - 1531-8257 (Electronic)
IS  - 0885-3185 (Linking)
VI  - 31
IP  - 4
DP  - 2016 Apr
TI  - Nomenclature of genetic movement disorders: Recommendations of the international 
      Parkinson and movement disorder society task force.
PG  - 436-57
LID - 10.1002/mds.26527 [doi]
AB  - The system of assigning locus symbols to specify chromosomal regions that are
      associated with a familial disorder has a number of problems when used as a
      reference list of genetically determined disorders,including (I) erroneously
      assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV)
      unconfirmed loci and genes, (V) a combination of causative genes and risk factor 
      genes in the same list, and (VI) discordance between phenotype and list
      assignment. In this article, we report on the recommendations of the
      International Parkinson and Movement Disorder Society Task Force for Nomenclature
      of Genetic Movement Disorders and present a system for naming genetically
      determined movement disorders that addresses these problems. We demonstrate how
      the system would be applied to currently known genetically determined
      parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea,
      paroxysmal movement disorders, neurodegeneration with brain iron accumulation,
      and primary familial brain calcifications. This system provides a resource for
      clinicians and researchers that, unlike the previous system, can be considered an
      accurate and criterion-based list of confirmed genetically determined movement
      disorders at the time it was last updated.
CI  - (c) 2016 International Parkinson and Movement Disorder Society.
FAU - Marras, Connie
AU  - Marras C
AD  - Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and
      the Edmond J. Safra Program in Parkinson's Disease, University of Toronto,
      Toronto, Canada.
FAU - Lang, Anthony
AU  - Lang A
AD  - Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and
      the Edmond J. Safra Program in Parkinson's Disease, University of Toronto,
      Toronto, Canada.
FAU - van de Warrenburg, Bart P
AU  - van de Warrenburg BP
AD  - Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour,
      Radboud University Medical Centre, Nijmegen, The Netherlands.
FAU - Sue, Carolyn M
AU  - Sue CM
AD  - Department of Neurology, Royal North Shore Hospital and Kolling Institute of
      Medical Research, University of Sydney, St. Leonards, New South Wales, Australia.
FAU - Tabrizi, Sarah J
AU  - Tabrizi SJ
AD  - Department of Neurodegenerative Disease, Institute of Neurology, University
      College London, London, UK.
FAU - Bertram, Lars
AU  - Bertram L
AD  - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of
      Neurogenetics and Integrative and Experimental Genomics, University of Lubeck,
      Lubeck, Germany.
AD  - School of Public Health, Faculty of Medicine, Imperial College, London, UK.
FAU - Mercimek-Mahmutoglu, Saadet
AU  - Mercimek-Mahmutoglu S
AD  - Division of Clinical and Metabolic Genetics, Department of Pediatrics, University
      of Toronto, The Hospital for Sick Children, Toronto, Canada.
FAU - Ebrahimi-Fakhari, Darius
AU  - Ebrahimi-Fakhari D
AD  - Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of
      Pediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg,
      Heidelberg, Germany.
AD  - Department of Neurology & F. M. Kirby Neurobiology Center, Boston Children's
      Hospital, Boston, Massachusetts, USA.
FAU - Warner, Thomas T
AU  - Warner TT
AD  - Reta Lila Weston Institute of Neurological Studies, Department of Molecular
      Neurosciences, UCL Institute of Neurology, London, UK.
FAU - Durr, Alexandra
AU  - Durr A
AD  - Sorbonne Universite, UPMC, Inserm and Hopital de la Salpetriere, Departement de
      Genetique et Cytogenetique, Paris, France.
FAU - Assmann, Birgit
AU  - Assmann B
AD  - Division of Pediatric Neurology, Department of Pediatrics I, Heidelberg
      University Hospital, Ruprecht-Karls-University Heidelberg.
FAU - Lohmann, Katja
AU  - Lohmann K
AD  - Institute of Neurogenetics, University of Lubeck, Lubeck, Germany.
FAU - Kostic, Vladimir
AU  - Kostic V
AD  - Institute of Neurology, School of Medicine University of Belgrade, Belgrade,
FAU - Klein, Christine
AU  - Klein C
AD  - Institute of Neurogenetics, University of Lubeck, Lubeck, Germany.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Mov Disord
JT  - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
SB  - IM
CIN - Mov Disord. 2016 Nov;31(11):1759-1760. PMID: 27548302
CIN - Mov Disord. 2016 Nov;31(11):1758-1759. PMID: 27612445
CIN - Mov Disord. 2016 Nov;31(11):1760-1762. PMID: 27619077
MH  - Humans
MH  - Movement Disorders/*classification/*genetics
MH  - Societies, Medical/*standards
OT  - genetics
OT  - movement disorders
OT  - nomenclature
EDAT- 2016/04/16 06:00
MHDA- 2017/01/18 06:00
CRDT- 2016/04/16 06:00
PHST- 2015/05/12 00:00 [received]
PHST- 2015/10/21 00:00 [revised]
PHST- 2015/11/22 00:00 [accepted]
PHST- 2016/04/16 06:00 [entrez]
PHST- 2016/04/16 06:00 [pubmed]
PHST- 2017/01/18 06:00 [medline]
AID - 10.1002/mds.26527 [doi]
PST - ppublish
SO  - Mov Disord. 2016 Apr;31(4):436-57. doi: 10.1002/mds.26527.