Article
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.
BMC neurology - 3 Nov 2022
Kobayashi Ryota, Naruse Hiroya, Kawakatsu Shinobu, Iseki Chifumi, Suzuki Yuya, Koyama Shingo, Morioka Daichi, Ishiura Hiroyuki, Mitsui Jun, Ohta Yasuyuki, Tsuji Shoji, Toda Tatsushi, Otani Koichi
Abstract excerpt
BACKGROUND: Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Previously identified pathogenic variants in VCP are associated with frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) pathologically, but p.Asp395Gly VCP was recently reported to cause...
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