The genetic nomenclature of recessive cerebellar ataxias

Rossi, M. , Anheim, M. , Durr, A. , Klein, C. , Koenig, M. , Synofzik, M. , Marras, C. , van de Warrenburg, B. P. and , (2018), Mov Disord.. . doi:10.1002/mds.27415

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 cerebellar ataxia. These are listed separately without the ATX prefix. This new, transparent and adaptable nomenclature of the recessive cerebellar ataxias will facilitate the clinical recognition of recessive ataxias, guide diagnostic testing in ataxia patients, and help in interpreting genetic findings.

Cognitive and functional connectivity alterations in Friedreich's ataxia

Sirio Cocozza, Teresa Costabile, Enrico Tedeschi, Filomena Abate, Camilla Russo, Agnese Liguori, Walter Del Vecchio, Francesca Paciello, Mario Quarantelli, Alessandro Filla, Arturo Brunetti, Francesco Saccà; Annals of Clinical and Translational Neurology doi:10.1002/acn3.555

The aim of this study was to perform the first resting‐state functional MRI (RS‐fMRI) analysis in Friedreich's ataxia (FRDA) patients to assess possible brain functional connectivity (FC) differences in these patients, and test their correlations with neuropsychological performances.

EU/3/18/1990: Public summary of opinion on orphan designation: Dimethyl fumarate for the treatment of Friedreich's ataxia

European Medicines Agency. On 21 March 2018, orphan designation (EU/3/18/1990) was granted by the European Commission to PharmaBio Consulting, Germany, for dimethyl fumarate for the treatment of Friedreich's ataxia.