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Spinocerebellar ataxia type 21 exists in the Chinese Han population.
Zeng S, Zeng J, He M, Zeng X, Zhou Y, Liu Z, Xia K, Pan Q, Jiang H, Shen L, Yan X, Tang B, Wang J. Zeng S, et al. Sci Rep. 2016 Jan 27;6:19897. doi: 10.1038/srep19897. Sci Rep. 2016. PMID: 26813285 Free PMC article.
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome t …
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type …
The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).
Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. Burdekin ED, et al. J Child Neurol. 2020 Dec;35(14):953-962. doi: 10.1177/0883073820943488. Epub 2020 Jul 24. J Child Neurol. 2020. PMID: 32705938 Free PMC article.
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) is a rare form of cerebellar ataxia that commonly presents with motor, cognitive, and behavioral impairments. ...
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) is a rare form of cerebellar ataxia that commonly presents wi …