Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

A. Hentati, H. X. Deng, H. Zhai, W. Chen, Y. Yang, W. Y. Hung, A. C. Azim, S. Bohlega, R. Tandan, C. Warner, N. G. Laing, F. Cambi, H. Mitsumoto, R. P. Roos, R. M. Boustany, M. Ben Hamida, F. Hentati, Teepu Siddique*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

55 Scopus citations

Abstract

Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.

Original languageEnglish (US)
Pages (from-to)1388-1390
Number of pages3
JournalNeurology
Volume55
Issue number9
StatePublished - Nov 14 2000

ASJC Scopus subject areas

  • Clinical Neurology

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