کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6805625 1433564 2014 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 35, Issue 10, October 2014, Pages 2420.e7-2420.e12
نویسندگان
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