Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene |
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Authors: | Akinori Nakamura Satoshi Kuru Akiyo Hineno Chinatsu Kobayashi Tomomi Kinoshita Daigo Miyazaki Shu-ichi Ikeda |
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Affiliation: | 1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine l, Matsumoto Japan;2. Intractable Disease Care Center, Shinshu University Hospital, Matsumoto, Japan;3. Department of Neurology, National Suzuka-Hospital, Suzuka, Japan |
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Abstract: | 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. |
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Keywords: | Familial amyotrophic lateral sclerosis (FALS) Lower motor neuron disease Copper/zinc superoxide dismutase (SOD1) Duplication mutation |
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