Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6805625 | Neurobiology of Aging | 2014 | 6 Pages |
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.
Keywords
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Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Akinori Nakamura, Satoshi Kuru, Akiyo Hineno, Chinatsu Kobayashi, Tomomi Kinoshita, Daigo Miyazaki, Shu-ichi Ikeda,