Abstract
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. We report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A. Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Amino Acid Substitution
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Binding Sites
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Chromatography, High Pressure Liquid
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Chromosomes, Human, Pair 12 / genetics
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Female
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Genes, Dominant*
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Haplotypes / genetics
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Humans
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Kinesins
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Lod Score
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Male
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Microtubule-Associated Proteins / chemistry
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Microtubule-Associated Proteins / genetics
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Microtubule-Associated Proteins / physiology*
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Microtubules / metabolism
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Mutation, Missense*
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Pedigree
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Point Mutation*
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Polymerase Chain Reaction
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Protein Interaction Mapping
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Spastic Paraplegia, Hereditary / genetics*
Substances
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KIF5A protein, human
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Microtubule-Associated Proteins
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Kinesins