Article
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation.
Acta neuropathologica - 1 Aug 2011
Ito Hidefumi, Nakamura Masataka, Komure Osamu, Ayaki Takashi, Wate Reika, Maruyama Hirofumi, Nakamura Yoshimi, Fujita Kengo, Kaneko Satoshi, Okamoto Yoko, Ihara Masafumi, Konishi Tetsuro, Ogasawara Kazumasa, Hirano Asao, Kusaka Hirofumi, Kaji Ryuji, Takahashi Ryosuke, Kawakami Hideshi
Abstract excerpt
We investigated a family manifesting amyotrophic lateral sclerosis (ALS) with a heterozygous E478G mutation in the optineurin (OPTN) gene. Clinically, slow deterioration of motor function, mood and personality changes, temporal lobe atrophy on neuroimaging, and bizarre finger deformity were noted. Neuropathologically, TAR DNA-binding protein 43 (TDP-43)-positive neuronal intracytoplasmic inclusions were observed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.