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 journalArticle

30 Citations (Scopus)

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

Fingerprint

Hereditary Spastic Paraplegia
Arachnoid Cysts
Pyramidal Tracts
Paraplegia
Motor Neurons
Missense Mutation
Exons
Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Orlacchio, A., Gaudiello, F., Totaro, A., Floris, R., St. George-Hyslop, P. H., Bernardi, G., & Kawarai, T. (2004). A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology, 62(10), 1875-1878.

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. / Orlacchio, A.; Gaudiello, F.; Totaro, A.; Floris, R.; St. George-Hyslop, P. H.; Bernardi, G.; Kawarai, T.

In: Neurology, Vol. 62, No. 10, 25.05.2004, p. 1875-1878.

Research output: Contribution to journalArticle

Orlacchio, A, Gaudiello, F, Totaro, A, Floris, R, St. George-Hyslop, PH, Bernardi, G & Kawarai, T 2004, 'A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts', Neurology, vol. 62, no. 10, pp. 1875-1878.
Orlacchio A, Gaudiello F, Totaro A, Floris R, St. George-Hyslop PH, Bernardi G et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology. 2004 May 25;62(10):1875-1878.
Orlacchio, A. ; Gaudiello, F. ; Totaro, A. ; Floris, R. ; St. George-Hyslop, P. H. ; Bernardi, G. ; Kawarai, T. / A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. In: Neurology. 2004 ; Vol. 62, No. 10. pp. 1875-1878.
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