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KMID : 1130620150110040390
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Journal of Clinical Neurology
2015 Volume.11 No. 4 p.390 ~ p.394
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A Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid
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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
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Abstract
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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 BP. 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.
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KEYWORD
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amyotrophic lateral sclerosis, bullous pemphigoid, superoxide dismutase, autoimmunity
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