Article
Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene.
Acta neuropathologica - 1 Sept 2013
Shimizu Hiroshi, Toyoshima Yasuko, Shiga Atsushi, Yokoseki Akio, Arakawa Keiko, Sekine Yumi, Shimohata Takayoshi, Ikeuchi Takeshi, Nishizawa Masatoyo, Kakita Akiyoshi, Onodera Osamu, Takahashi Hitoshi
Abstract excerpt
Accumulating evidence suggests that heterozygous mutations in the SQSTM1 gene, which encodes p62 protein, are associated with amyotrophic lateral sclerosis (ALS). Here, we report a Japanese patient with sporadic, late-onset ALS who harbored compound heterozygous SQSTM1 mutations (p.[Val90Met];[Val153Ile]). Autopsy examination revealed that although TDP-43 pathology was rather widespread, the selective occurrence...
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