A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
case_series · Level IV
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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.
Medical subject headings
- Adenosine Triphosphatases
- Arachnoid Cysts
- Mutation, Missense
- Spastic Paraplegia, Hereditary
Anatomy
- foot