Article
Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2014
Kamada Masaki, Izumi Yuishin, Ayaki Takashi, Nakamura Masataka, Kagawa Seiko, Kudo Eiji, Sako Wataru, Maruyama Hirofumi, Nishida Yoshihiko, Kawakami Hideshi, Ito Hidefumi, Kaji Ryuji
Abstract excerpt
We performed clinicopathological analyses of two amyotrophic lateral sclerosis (ALS) patients with homozygous Q398X optineurin (OPTN) mutation. Clinically, both patients presented signs of upper and lower motor neuron degeneration, but only Patient 1 showed gradual frontal dysfunction and extrapyramidal signs, and temporal lobe and motor cortex atrophy. Neuropathological examination of Patient 1 revealed...
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