Abstract
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
(c) 2006 Movement Disorder Society.
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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Alleles
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Amino Acid Substitution / genetics*
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DNA Mutational Analysis*
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Genetic Carrier Screening
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Humans
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Male
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Membrane Proteins / genetics*
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Neurologic Examination
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Protein Structure, Secondary / genetics
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Protein Structure, Tertiary / genetics
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Spastic Paraplegia, Hereditary / diagnosis
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Spastic Paraplegia, Hereditary / genetics*
Substances
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Membrane Proteins
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NIPA1 protein, human