Familial dementia with Lewy bodies with VPS13C mutations

Mutations in the vacuolar protein sorting 13 homolog C (VPS13C) gene have been reported to be associated with early-onset autosomal recessive Parkinson's disease (PD) [1 –3]. VPS13C has been shown to be involved in mitochondrial function through the maintenance of mitochondrial transmembrane potential; thus, loss of VPS13C function causes mitochondrial dysfunction, leading to various neurological symptoms [1]. Previous studies reported that the majority of the pat ients with VPS13C mutations had early-onset parkinsonism with an age at onset of 45 years or younger and the cognitive function deteriorated rapidly with disease progression [1,2].

Source: Parkinsonism and Related Disorders - October 5, 2020 Category: Neurology Authors: Ryota Kobayashi, Hiroya Naruse, Shingo Koyama, Shinobu Kawakatsu, Hiroshi Hayashi, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Tatsushi Toda, Shoji Tsuji, Koichi Otani Tags: Correspondence Source Type: research