Journal of the neurological sciences · 2009
Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.
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Wang Yin-guang, Du Juan, Wang Jun-ling, Chen Juan, Chen Chong, Luo Ying-ying, Xiao Zhi-quan, Jiang Hong, Yan Xin-xiang, Xia Kun, Pan Qian, Tang Bei-sha, Shen Lu
Аннотация
BACKGROUND: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia with or without cerebellar ataxia, which was partially first diagnosed as hereditary spastic paraplegia (HSP) and considered to be a new subtype (subtype V). But the data in China is still absent.
OBJECTIVE: To investigate the mutation frequency and clinical features of subtype V of SCA3/MJD in Chinese patients with HSP.
METHODS: Mutation detection of MJD1 gene was carried out in 46 AD-HSP families and 58 sporadic cases.
RESULTS: Expanded CAG repeats that ranged from 64 to 81 of MJD1 gene were found in six probands from 46 AD-HSP families (13%, 6/46). No abnormal repeat expansion was found in sporadic cases (0/58). The initial symptoms of six SCA3 cases were all spasticity in the lower limbs, and nystagmus, dysphagia and dysarthria that occurred with disease progression seemed more frequent than HSP.
CONCLUSION: Subtype V of SCA3/MJD is not rare in China, but it is hard to distinguish between HSP and SCA3/MJD only by clinical manifestation and MRI, and MJD1 gene should be detected routinely in the patients diagnosed as HSP in clinic.
OBJECTIVE: To investigate the mutation frequency and clinical features of subtype V of SCA3/MJD in Chinese patients with HSP.
METHODS: Mutation detection of MJD1 gene was carried out in 46 AD-HSP families and 58 sporadic cases.
RESULTS: Expanded CAG repeats that ranged from 64 to 81 of MJD1 gene were found in six probands from 46 AD-HSP families (13%, 6/46). No abnormal repeat expansion was found in sporadic cases (0/58). The initial symptoms of six SCA3 cases were all spasticity in the lower limbs, and nystagmus, dysphagia and dysarthria that occurred with disease progression seemed more frequent than HSP.
CONCLUSION: Subtype V of SCA3/MJD is not rare in China, but it is hard to distinguish between HSP and SCA3/MJD only by clinical manifestation and MRI, and MJD1 gene should be detected routinely in the patients diagnosed as HSP in clinic.