Abstract

RODRIGUEZ PUPO, Jorge Michel et al. Main neurophysiological, clinical and genetics advances on Hereditary cerebellar ataxias. ccm [online]. 2019, vol.23, n.2, pp.599-622.  Epub Sep 30, 2019. ISSN 1560-4381.

The term “Hereditary cerebellar ataxia” comprises a wide spectrum of neurological disorders where ataxia is the main symptom. Hereditary ataxias are a complex group of entities, in which detection is essential for an adequate genetic assessment, satisfactory clinical control and in some cases, a suitable therapeutic approach. Clinical semiology variety and molecular biology advanceshave become hereditary ataxias one of the most interesting subjects inside neurology. Subtypes clinical diagnosis of ataxias is complicated by the salient overlap of phenotypes between genetic subtypes. In this article, we refer to the most important neurophysiological, clinical and genetics advances of hereditary cerebellar ataxias.

Keywords : hereditary cerebellar ataxias; genetic assessment; molecular biology; phenotypes.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )