Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

doi:10.1002/mds.26527

Review

. 2016 Apr;31(4):436-57.

doi: 10.1002/mds.26527.

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Affiliations

¹ Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Canada.
² Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
³ Department of Neurology, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, St. Leonards, New South Wales, Australia.
⁴ Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK.
⁵ Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany.
⁶ School of Public Health, Faculty of Medicine, Imperial College, London, UK.
⁷ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
⁸ Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of Pediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.
⁹ Department of Neurology & F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁰ Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK.
¹¹ Sorbonne Université, UPMC, Inserm and Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.
¹² Division of Pediatric Neurology, Department of Pediatrics I, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg.
¹³ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹⁴ Institute of Neurology, School of Medicine University of Belgrade, Belgrade, Serbia.

PMID: 27079681
DOI: 10.1002/mds.26527

Review

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Connie Marras et al. Mov Disord. 2016 Apr.

. 2016 Apr;31(4):436-57.

doi: 10.1002/mds.26527.

Authors

Affiliations

¹ Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Canada.
² Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
³ Department of Neurology, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, St. Leonards, New South Wales, Australia.
⁴ Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK.
⁵ Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany.
⁶ School of Public Health, Faculty of Medicine, Imperial College, London, UK.
⁷ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
⁸ Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of Pediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.
⁹ Department of Neurology & F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁰ Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK.
¹¹ Sorbonne Université, UPMC, Inserm and Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.
¹² Division of Pediatric Neurology, Department of Pediatrics I, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg.
¹³ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹⁴ Institute of Neurology, School of Medicine University of Belgrade, Belgrade, Serbia.

PMID: 27079681
DOI: 10.1002/mds.26527

Abstract

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.

Keywords: genetics; movement disorders; nomenclature.

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Comment in

Locus Pocus.
Jinnah HA. Jinnah HA. Mov Disord. 2016 Nov;31(11):1759-1760. doi: 10.1002/mds.26765. Epub 2016 Aug 22. Mov Disord. 2016. PMID: 27548302 Free PMC article. No abstract available.
"Complex" dystonia is not a category in the new 2013 consensus classification.
Albanese A, Bhatia K, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Mink JW, Teller JK. Albanese A, et al. Mov Disord. 2016 Nov;31(11):1758-1759. doi: 10.1002/mds.26764. Epub 2016 Sep 10. Mov Disord. 2016. PMID: 27612445 Free PMC article. No abstract available.
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. Klein C, et al. Mov Disord. 2016 Nov;31(11):1760-1762. doi: 10.1002/mds.26763. Epub 2016 Sep 13. Mov Disord. 2016. PMID: 27619077 No abstract available.

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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

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