Article

Complete loss of CASK causes severe ataxia through cerebellar degeneration in human and mouse

2021-03-22

Abstract excerpt

Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome) causes neurodevelopmental disorders (NDD) in girls, while in boys such loss leads to profound encephalopathy. The cellular basis for these disorders remains unknown. CASK is presumed to work through the Tbr1-reelin pathway in neuronal migration during brain development. Here we report our clinical and histopathological analysis of a deceased 2...

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Literature Corpus work: 6f314b44-877a-5eb7-a9e0-31ae17e27850
DOI: 10.1101/2021.03.22.436280

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