Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome

摘要: Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia type 21 mental retardation and severe cognitive impairment’. The striking feature of clinical presentation was not only cerebellar volume loss on imaging, but also neurobehavioural impairments that were pervasive, and—in younger onset cases—severe enough to warrant designation retardation. neuropsychological examinations SCA21 kindreds disclosed moderate in attention, executive function, short-term, working episodic memory abilities and, marked action planning, abstract reasoning, language visuospatial functions. authors report neuropsychiatric phenomena including impulsivity, aggression apathy etc. Despite centrality features this genetic basis manifestations SCA21, do reflect importance their observations for our understanding wider role cerebellum beyond motor control, which case series represents …