A Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid

作者：Oh Seong il; Hong Jeong Ho; Choi Byung Woo; Oh Ki Wook; Park Chan Kum; Kwon Min Jung; Ki Chang Seok; Ko Joo Yeon; Kim Seung Hyun^*

来源：Journal of Clinical Neurology, 2015, 11(4): 390-394.

DOI：10.3988/jcn.2015.11.4.390

• amyotrophic lateral sclerosis
• bullous pemphigoid
• superoxide dismutase
• autoimmunity

Background The coexistence of an autoimmune disease and amyotrophic lateral sclerosis (ALS) has led to the hypothesis that immune-mediated pathological mechanisms are overlapping in the two diseases. We report herein a rare coexistence of bullous pemphigoid (BP) in a novel mutation (F45S) of the gene encoding Cu/Zn superoxide dismutase (SOD1) in an ALS patient, and discuss a role for the SOD1 mutation in this unusual overlap.
Case Report A 57-year-old male with familial ALS, including vesicles and tense bullae on erythematous bases, was diagnosed with BP. Direct immunofluorescence revealed deposits of C3 and immunoglobulin G in the basement membrane zone. Direct sequencing of SOD1 in the patient revealed a novel mutation (c.137T>C; F45S).
Conclusions We report a novel SOD1 mutation in ALS, which was combined with BR This novel SOD1 mutation could affect the phenotype of a combined autoimmune disease and matrix metalloproteinase-9. There may therefore be common factors linking BP and ALS with the SOD1 mutation.

• 出版日期2015-10