Basophilic peripheral nerve inclusions in a patient with L144F SOD1 amyotrophic lateral sclerosis

Introduction. Histopathological findings of various inclusions were reported in the central nervous system amyotrophic lateral sclerosis (ALS) patients but not peripheral nerves. Case report. We present a 66-year-old man with lower limb weakness, later development weakness upper limbs and loss sphincter control. Neurological examination showed affection both motor neurons. He had paresthesia on left side his body socks-distribution numbness. Histopathology sural nerve genetic report basophilic periodic acid-Schiff (PAS)-positive intra-axonal heterozygous L144F mutation exon 5 SOD1 gene. Conclusion. It seems that presence may suggest diagnosis SOD1-positive ALS.