Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation

Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease characterized by loss of motor neurons. Approximately 10% of ALS cases are classified as familial (FALS) and the remaining are considered to be sporadic (SALS). To date, more than 20 causative FALS genes were identified, and 20% of FALS cases are reported to be caused by mutations in the superoxide dismutase (SOD1) gene. In SOD1-linked FALS cases, the median age of onset is about 50 years, and the disease duration is 3 years [1].

Source: Clinical Neurology and Neurosurgery - August 5, 2016 Category: Neurosurgery Authors: Ayumi Nishiyama, Hitoshi Warita, Toshiaki Takahashi, Naoki Suzuki, Shuhei Nishiyama, Ohito Tano, Tetsuya Akiyama, Yasuaki Watanabe, Kenta Takahashi, Hiroshi Kuroda, Masaaki Kato, Maki Tateyama, Tetsuya Niihori, Yoko Aoki, Masashi Aoki Tags: Case Report Source Type: research