Article

Complete Loss of CASK Causes Severe Ataxia Through Cerebellar Degeneration

2021-05-25

Abstract excerpt

<title>Abstract</title> <p>Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome) causes neurodevelopmental disorders (NDD) in girls, while in boys loss of the only allele of these genes 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. Here we report clinical and histopathologi...

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Literature Corpus work: 4014df02-c581-5fda-9ecb-ce72487c3c95
DOI: 10.21203/rs.3.rs-456061/v2

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