Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene.
Familial amyotrophic lateral sclerosis accounts for about 5% of all cases of the neurodegenerative disorder amyotrophic lateral sclerosis. Genetic mutations in Cu/Zn superoxide dismutase (SOD1) have been associated with one kind of familial amyotrophic lateral sclerosis (ALS1). We identified a novel duplication mutation in exon 1 of the SOD1 gene in a Japanese family whose members had lower motor neuron diseases. The patients showed slow disease progression, with the onset of lower limb muscle weakness and exertional dyspnea. Some patients had mild motor and sensory neuropathy and/or bladder dysfunction, which is further evidence that SOD1 mutation results in a predominantly lower motor neuron phenotype.
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan; Intractable Disease Care Center, Shinshu University Hospital, Matsumoto, Japan. Electronic address: anakamu@shinshu-u.ac.jp.
Akinori
A
Nakamura
Department of Neurology, National Suzuka-Hospital, Suzuka, Japan.
Satoshi
S
Kuru
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan.
Akiyo
A
Hineno
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan.
Chinatsu
C
Kobayashi
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan.
Tomomi
T
Kinoshita
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan.
Daigo
D
Miyazaki
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan.
Shu-ichi
S
Ikeda
D000368:Aged; D044466:Asian People / Q000235:genetics; D018450:Disease Progression; D005091:Exons / Q000235:genetics*; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013997:Time Factors
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
Copper/zinc superoxide dismutase (SOD1); Duplication mutation; Familial amyotrophic lateral sclerosis (FALS); Lower motor neuron disease