Abstract
The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.
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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Adenosine Triphosphatases / chemistry
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Adenosine Triphosphatases / genetics*
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Alleles
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Amino Acid Substitution*
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DNA Mutational Analysis
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Exons / genetics
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Female
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Genes, Dominant
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Genetic Heterogeneity
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Genotype
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Humans
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Infant
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Mutation, Missense*
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Pedigree
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Penetrance
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Phenotype
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Point Mutation*
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Spastic Paraplegia, Hereditary / genetics*
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Spastin
Substances
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Adenosine Triphosphatases
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Spastin
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SPAST protein, human