A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

Toshitaka KawaraiAtsushi TajimaYukiko KurodaNaoki SajiAntonio OrlacchioHideo TerasawaHirotaka ShimizuYasushi KitaYuishin IzumiTakao MitsuiIssei ImotoRyuji Kaji

Published in: Journal of neurology, neurosurgery, and psychiatry (2015)

Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues.

Keyphrases

intellectual disability
autism spectrum disorder
oxidative stress
gene expression
cell death
early onset
cell proliferation
signaling pathway
brain injury
blood brain barrier