A Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid
Journal of Clinical Neurology
;
: 390-394, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-188613
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Doenças Autoimunes
/
Superóxido Dismutase
/
Membrana Basal
/
Imunoglobulina G
/
Autoimunidade
/
Estimulação Elétrica Nervosa Transcutânea
/
Penfigoide Bolhoso
/
Técnica Direta de Fluorescência para Anticorpo
/
Metaloproteinase 9 da Matriz
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2015
Tipo de documento:
Artigo
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