Article
The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).
Journal of child neurology - 1 Dec 2020
Burdekin Emma D, Fogel Brent L, Jeste Shafali S, Martinez Julian, Rexach Jessica E, DiStefano Charlotte, Hyde Carly, Safari Tabitha, Wilson Rujuta B
Abstract excerpt
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) is a rare form of cerebellar ataxia that commonly presents with motor, cognitive, and behavioral impairments. Although these features have been identified as part of the clinical manifestations of SCA21, the neurodevelopmental disorders associated with SCA21 have not been well studied or described. Here we present extensive phenotypic data for 3 subjects from an...
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