Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

摘要: Abstract Background Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative characterized by cerebellar associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia or without ataxia, which partially first diagnosed as hereditary (HSP) and considered to be new subtype (subtype V). But the data in China still absent. Objective To investigate mutation frequency clinical features V Chinese HSP. Methods Mutation detection MJD1 gene carried out 46 AD-HSP families 58 sporadic cases. Results Expanded CAG repeats ranged from 64 81 were found six probands (13%, 6/46). No abnormal repeat expansion cases (0/58). The initial symptoms SCA3 all spasticity lower limbs, nystagmus, dysphagia dysarthria occurred progression seemed more frequent than Conclusion Subtype not rare China, but it hard distinguish between HSP only manifestation MRI, should detected routinely clinic.