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Neurology. 2004 May 25;62(10):1875-8.

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

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1
Laboratory of Neurogenetics, University of Rome Tor Vergata, Rome, Italy. a.orlacchio@hsantalucia.it

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.

PMID:
15159500
[Indexed for MEDLINE]
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