Novel 4-bp insertion in exon 5 of the CuZn-superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
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چکیده
منابع مشابه
Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations.
Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to familial amyotrophic lateral sclerosis (ALS), and motor neurone death is caused by the gain of a toxic property of the mutant protein. Here we determined amounts, activity and molecular forms of CuZn-SOD in CSF from ALS patients carrying the D90A and other CuZn-SOD mutations and patients without such mutations. There were no ...
متن کاملAnticipation and Phenotypic Heterogeneity in Korean Familial Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Gene Mutation
BACKGROUND AND PURPOSE Different mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported in approximately 10% of cases of familial amyotrophic lateral sclerosis (ALS). The aim of this study was to analyze for mutations in the SOD1 gene and clinical characteristics in Korean family of ALS. METHODS A subpopulation of the family reported here has been described previously. I...
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Cover illustration: Lumbar spinal cord section from an ALS patient with sclerosis of the corticospinal tract. Klüver–Barerra staining. ABSTRACT Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons in the spinal cord, brain stem and motor cortex, leading to paralysis, respiratory failure and death. In about 5% of ALS cases, the disease is associa...
متن کاملStrategies for stabilizing superoxide dismutase (SOD1), the protein destabilized in the most common form of familial amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis (ALS) is a disorder characterized by the death of both upper and lower motor neurons and by 3- to 5-yr median survival postdiagnosis. The only US Food and Drug Administration-approved drug for the treatment of ALS, Riluzole, has at best, moderate effect on patient survival and quality of life; therefore innovative approaches are needed to combat neurodegenerative d...
متن کاملAnticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation.
A myotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by the degeneration of motor neurons in the spinal cord, brain stem, and motor cortex, resulting in paralysis of limb, bulbar, and respiratory muscles. About 10% of ALS show a familial trait, and up to 20% of familial ALS is caused by missense mutations of Cu/Zn superoxide dismutase (SOD1). More than 70 mutations ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1998
ISSN: 1059-7794
DOI: 10.1002/humu.13801101107