A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Kazuki WatanabeTomoyasu BunaiMasamune SakamotoSayaka IshigakiTakamasa IwakuraNaro OhashiRie WakatsukiAkiyuki TakenouchiMoriya IwaizumiYoshihiro HottaKen SaidaEriko KoshimizuSatoko MiyatakeHirotomo SaitsuNaomichi MatsumotoTomohiko Nakamura

Published in: Journal of neurology (2024)

This investigation expands the clinical spectrum of NIID, suggesting that STR expansion of NOTCH2NLC is a cause of renal diseases, including FSGS.

Keyphrases

cell proliferation
brain injury