Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience
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Background: The clinical and genetic heterogeneity of hereditary ataxias presents a significant diagnostic challenge, particularly in sporadic adult-onset cases. Spinocerebellar ataxia type 27B (SCA27B) is caused by an intronic G... ...
