Familial dementia with Lewy bodies with VPS13C mutations. (December 2020)

• Record Type: Journal Article
• Authors: Kobayashi, Ryota; Naruse, Hiroya; Koyama, Shingo; Kawakatsu, Shinobu; Hayashi, Hiroshi; Ishiura, Hiroyuki; Mitsui, Jun; Ohta, Yasuyuki; Toda, Tatsushi; Tsuji, Shoji; Otani, Koichi
• Is Part Of: Parkinsonism & related disorders. Volume 81(2020)
• Page Start: 31
• Page End: 33
• Publication Date: 2020-12
• Subjects: Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2020.10.008
• Languages: English
• ISSNs: 1353-8020

Abstract

Highlights: VPS13C mutations associate with early-onset autosomal recessive PD. Novel pathogenic variants in VPS13C were identified in two siblings with DLB. Two siblings exhibited a phenotype of DLB without obvious parkinsonism. The clinical spectrum of patients with VPS13C variants could be wider than expected.