A Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid.
10.3988/jcn.2015.11.4.390
- Author:
Seong Il OH
1
;
Jeong Ho HONG
;
Byung Woo CHOI
;
Ki Wook OH
;
Chan Kum PARK
;
Min Jung KWON
;
Chang Seok KI
;
Joo Yeon KO
;
Seung Hyun KIM
Author Information
1. Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.
- Publication Type:Case Report
- Keywords:
amyotrophic lateral sclerosis;
bullous pemphigoid;
superoxide dismutase;
autoimmunity
- MeSH:
Amyotrophic Lateral Sclerosis*;
Autoimmune Diseases;
Autoimmunity;
Basement Membrane;
Fluorescent Antibody Technique, Direct;
Humans;
Immunoglobulin G;
Male;
Matrix Metalloproteinase 9;
Middle Aged;
Pemphigoid, Bullous*;
Phenotype;
Superoxide Dismutase;
Transcutaneous Electric Nerve Stimulation
- From:Journal of Clinical Neurology
2015;11(4):390-394
- CountryRepublic of Korea
- Language:English
-
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.
