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

Title
A Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid
Author
김승현
Keywords
amyotrophic lateral sclerosis; bullous pemphigoid; superoxide dismutase; autoimmunity
Issue Date
2015-10
Publisher
KOREAN NEUROLOGICAL ASSOC
Citation
JOURNAL OF CLINICAL NEUROLOGY, v. 11, NO 4, Page. 390-394
Abstract
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.
URI
https://synapse.koreamed.org/DOIx.php?id=10.3988/jcn.2015.11.4.390http://hdl.handle.net/20.500.11754/28370
ISSN
1738-6586; 2005-5013
DOI
10.3988/jcn.2015.11.4.390
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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