The spinocerebellar ataxias: clinical aspects and molecular genetics.
Advances in experimental medicine and biology, March 2012
Matilla-Dueñas A, Corral-Juan M, Volpini V, Sanchez I, Antoni Matilla-Dueñas, Marc Corral-Juan, Victor Volpini, Ivelisse Sanchez
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia often accompanied by additional cerebellar and noncerebellar symptoms which in most cases defy differentiation. Molecular causative deficits in at least 31 genes underlie the clinical symptoms in the SCAs by triggering cerebellar and, very frequently, brain stem dysfunction. The identification of the causative molecular deficits enables the molecular diagnosis of the different SCA subtypes and facilitates genetic counselling. Recent scientific advances are shedding light into developing therapeutic strategies. The scope of this chapter is to provide updated details of the spinocerebellar ataxias with particular emphasis on those aspects aimed at facilitating the clinical and genetic diagnoses.
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