Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.

Yoshiro MorimotoShintaro YoshidaAkira KinoshitaChisei SatohHiroyuki MishimaNaohiro YamaguchiKatsuya MatsudaMiako SakaguchiTakeshi TanakaYoshihiro KomoharaAkira ImamuraHiroki OzawaMasahiro NakashimaNaohiro KurotakiTatsuya KishinoKoh-Ichiro YoshiuraShinji Ono

Published in: Neurology (2019)

Our results strongly suggest that CFAP43 is responsible for morphologic or movement abnormalities of cilia in the brain that result in NPH.

Keyphrases

subarachnoid hemorrhage
white matter
cerebrospinal fluid
cerebral ischemia
brain injury