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.
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/MJDpatients 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.
Authors: Cecilia Bonnet; Emmanuelle Apartis; Mathieu Anheim; Andre P Legrand; Jose F Baizabal-Carvallo; Anne M Bonnet; Alexandra Durr; Marie Vidailhet Journal: J Neurol Date: 2012-05-17 Impact factor: 4.849
Authors: Swati Khare; Kira Galeano; Yalan Zhang; Jerelyn A Nick; Harry S Nick; S H Subramony; Jacinda Sampson; Leonard K Kaczmarek; Michael F Waters Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti Journal: Neuroradiology Date: 2021-03-17 Impact factor: 2.804
Authors: Yanetza González-Zaldívar; Yaimeé Vázquez-Mojena; José M Laffita-Mesa; Luis E Almaguer-Mederos; Roberto Rodríguez-Labrada; Gilberto Sánchez-Cruz; Raúl Aguilera-Rodríguez; Tania Cruz-Mariño; Nalia Canales-Ochoa; Patrick MacLeod; Luis Velázquez-Pérez Journal: Cerebellum Ataxias Date: 2015-02-21
Authors: Ji Seon Kim; Jong Min Kim; Yu Kyeong Kim; Sang Eun Kim; Ji Young Yun; Beom S Jeon Journal: J Korean Med Sci Date: 2013-10-31 Impact factor: 2.153