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N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
Author(s) -
Marras Connie,
Lang Anthony,
van de Warrenburg Bart P.,
Sue Carolyn M.,
Tabrizi Sarah J.,
Bertram Lars,
MercimekMahmutoglu Saadet,
EbrahimiFakhari Darius,
Warner Thomas T.,
Durr Alexandra,
Assmann Birgit,
Lohmann Katja,
Kostic Vladimir,
Klein Christine
Publication year - 2016
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26527
Subject(s) - movement disorders , chorea , parkinsonism , dystonia , neuroscience , ataxia , genetics , psychology , biology , medicine , disease , pathology
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. © 2016 International Parkinson and Movement Disorder Society