Cognitive repercussions of hereditary cerebellar disorders.

摘要: The hereditary ataxias are a group of genetically defined neurological diseases, which characterized by heterogeneous clinical presentation. Their overall prevalence is estimated to be 3-9/100,000. autosomal dominant cerebellar (spinocerebellar - SCA), the recessive and other forms inherited often present with core deficits (the so-called syndrome) combining oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and/or ataxic gait, although signs involvement may predominate. During last 20 years, there has been increasing debate about possible non-motor roles circuitry. In particular, modules would involved in fronto-executive functions, visuo-constructive skills, behaviour affect/emotion. Numerous studies carried out spontaneous or engineering mutant mice reinforce idea that damage affects both cognition emotions-related behaviours. Clinical descriptions report such cognitive variable extents, confirmed neuropsychological studies. Deficits mainly fall following domains: executive control, attention, memory learning, visuo-spatial abilities language. confrontation imaging investigations neuropathological studies, comparison symptoms found various as well data obtained animals suggest these result from disruption cerebro-cerebellar connections. Data support hypothesis circuitry tunes integrates information networks order provide necessary pre-processing increase automaticity aim reaching elaborate abstraction.