We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
- Authors
Hayashi, Hideki; Saito, Rie; Tanaka, Hidetomo; Hara, Norikazu; Koide, Shin; Yonemochi, Yosuke; Ozawa, Tetsuo; Hokari, Mariko; Toyoshima, Yasuko; Miyashita, Akinori; Onodera, Osamu; Okamoto, Kouichirou; Ikeuchi, Takeshi; Nakajima, Takashi; Kakita, Akiyoshi
- Abstract
This document presents the findings of an autopsy study on patients with Charcot-Marie-Tooth disease type 2A2 (CMT2A2), a genetic disorder that affects the peripheral nerves. The study found that both patients exhibited degeneration in multiple systems in the central nervous system (CNS) as well as peripheral nerves. The optic nerves were particularly affected, followed by degeneration of the lateral geniculate body and primary visual cortex. The study also observed ultrastructural changes in the mitochondria of the peripheral and optic nerves. Further research is needed to understand the selective vulnerability of sensory and motor neurons in CMT2A2.
- Subjects
CHARCOT-Marie-Tooth disease; CENTRAL nervous system; LATERAL geniculate body; PERIPHERAL nervous system; GENETIC mutation; VISUAL cortex
- Publication
Acta Neuropathologica Communications, 2023, Vol 11, Issue 1, p1
- ISSN
2051-5960
- Publication type
Article
- DOI
10.1186/s40478-023-01692-w