Validation and characterization of SPTAN1 mutations as a novel cause for hereditary cerebellar ataxia. University of Antwerp
SPTAN1 (α-II-spectrin) is the sole α-spectrin subtype in the nervous system and has a critical function in neuronal development and homeostasis. Intriguingly, mutations in SPTAN1 display a strikingly high degree of phenotypical heterogeneity. Previously only associated with epilepsy and intellectual disability, we recently published novel mutations in SPTAN1 associated with Hereditary Motor Neuropathy (HMN). We now have additional preliminary ...