Abstract
The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenosine Triphosphatases / genetics*
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Adenosine Triphosphatases / physiology
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Adolescent
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Adult
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Age of Onset
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Amino Acid Substitution
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Anticipation, Genetic
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Arachnoid Cysts / congenital
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Arachnoid Cysts / epidemiology
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Arachnoid Cysts / genetics*
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Arachnoid Cysts / pathology
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Cerebral Cortex / pathology
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Codon / genetics
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Dementia / genetics
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Exons / genetics
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Female
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Foot Deformities / genetics
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Genes, Dominant
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Humans
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Intellectual Disability / genetics
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Italy / epidemiology
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Mutation, Missense*
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Pyramidal Tracts / pathology
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Spastic Paraplegia, Hereditary / epidemiology
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Spastic Paraplegia, Hereditary / genetics*
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Spastic Paraplegia, Hereditary / pathology
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Spastin
Substances
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Codon
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Adenosine Triphosphatases
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Spastin
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SPAST protein, human