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


METHODS
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.
Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.
Seong Il
SI
Oh
Department of Dermatology, College of Medicine, Hanyang University, Seoul, Korea.
Jeong Ho
JH
Hong
Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea.
Byung Woo
BW
Choi
Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea.
Ki Wook
KW
Oh
Department of Pathology, College of Medicine, Hanyang University, Seoul, Korea.
Chan Kum
CK
Park
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Min Jung
MJ
Kwon
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Chang Seok
CS
Ki
Department of Dermatology, College of Medicine, Hanyang University, Seoul, Korea. drko0303@hanyang.ac.kr.
Joo Yeon
JY
Ko
Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea. kimsh1@hanyang.ac.kr.
Seung Hyun
SH
Kim
amyotrophic lateral sclerosis; autoimmunity; bullous pemphigoid; superoxide dismutase