Brusse, E.

ataxia patient mutation cerebellar family disease cerebellar ataxia fatigue study onset autosomal syndrome disorder recessive protein phenotype table mitochondrial symptom atrophy muscle treatment genet feature neurology analysis neurol spinocerebellar diagnosis score cause carrier brain tremor factor region trial fgf 14 group childhood chromosome expansion screening epilepsy f 145s mutation dutch scale dysfunction cerebellar ataxias netherland locus neuropathy severity marker retardation prednisolone fgf 14 gene flammatory demyelinating polyradiculoneuropathy dexamethasone motor value classification spinocerebellar ataxia algorithm function subtype examination figure model university autosomal recessive ataxia center individual result p.a 467t mutation level growth fibroblast system remission