Article
The genetic nomenclature of recessive cerebellar ataxias.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2018
Rossi Malco, Anheim Mathieu, Durr Alexandra, Klein Christine, Koenig Michel, Synofzik Matthis, Marras Connie, van de Warrenburg Bart P
Abstract excerpt
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...
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