Abstract
The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Aged, 80 and over
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DNA / analysis
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DNA / genetics
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DNA Transposable Elements / genetics
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Female
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Frameshift Mutation / genetics*
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GTP Phosphohydrolases / genetics*
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GTP-Binding Proteins
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Gene Frequency
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Genes, Dominant / genetics
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Humans
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Italy
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Male
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Membrane Proteins
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Middle Aged
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Muscle, Skeletal / pathology
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Pedigree
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Spastic Paraplegia, Hereditary / genetics*
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Spastic Paraplegia, Hereditary / pathology
Substances
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DNA Transposable Elements
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Membrane Proteins
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DNA
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ATL1 protein, human
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GTP Phosphohydrolases
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GTP-Binding Proteins