The genetic nomenclature of recessive cerebellar ataxias

Movement Disorders : Official Journal of the Movement Disorder Society
Malco RossiInternational Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Diso

Abstract

The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity. Because of several limitations, the current classification systems provide insufficient guidance for clinicians and researchers. Here, we propose a new nomenclature for the genetically confirmed recessive cerebellar ataxias according to the principles and criteria laid down by the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. We apply stringent criteria for considering an association between gene and phenotype to be established. The newly proposed list of recessively inherited cerebellar ataxias includes 62 disorders that were assigned an ATX prefix, followed by the gene name, because these typically present with ataxia as a predominant and/or consistent feature. An additional 30 disorders that often combine ataxia with a predominant or consistent other movement disorder received a double prefix (e.g., ATX/HSP). We also identified a group of 89 entities that usually present with complex nonataxia phenotypes, but may occasionally present with cerebe...Continue Reading

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Citations

Jan 16, 2019·Der Nervenarzt·Stephan Klebe, Dagmar Timmann
Mar 9, 2019·Brain : a Journal of Neurology·Siri L RydningKaja K Selmer
Apr 11, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Norbert Brüggemann, Christine Klein
Sep 4, 2019·Nature Communications·Simon R BushellElisabeth P Carpenter
Oct 16, 2019·Journal of Neurology·Claire GuissartMichel Koenig
Dec 4, 2019·Current Opinion in Neurology·Mario MantoMichael Strupp
May 20, 2020·Brain : a Journal of Neurology·Ilse EidhofBart P van de Warrenburg
Apr 28, 2020·Annals of Neurology·Andreas TraschützMatthis Synofzik
Feb 20, 2020·Movement Disorders Clinical Practice·Malco RossiMarcelo Merello
Oct 5, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Sterre van der VeenMarina A J Tijssen
Oct 13, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Mathilde RenaudMathieu Anheim
Jan 12, 2021·Movement Disorders Clinical Practice·Malco RossiBart van de Warrenburg
Apr 4, 2021·International Journal of Molecular Sciences·Ana Ching-LópezPurificacion Gutierrez-Ríos
Jul 9, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mehdi BenkiraneMichel Koenig
Jul 6, 2021·Neurogenetics·Magdalena Krygier, Maria Mazurkiewicz-Bełdzińska
Sep 10, 2021·Journal of Neurology·Nataša Dragašević-MiškovićVladimir S Kostić

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