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

A. Orlacchio, F. Gaudiello, A. Totaro, R. Floris, P. H. St. George-Hyslop, G. Bernardi, T. Kawarai

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1875-1878
Number of pages4
JournalNeurology
Volume62
Issue number10
Publication statusPublished - May 25 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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