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


Journal Article

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.

Full Text

Cited Authors

  • Hentati, A; Deng, HX; Zhai, H; Chen, W; Yang, Y; Hung, WY; Azim, AC; Bohlega, S; Tandan, R; Warner, C; Laing, NG; Cambi, F; Mitsumoto, H; Roos, RP; Boustany, RM; Ben Hamida, M; Hentati, F; Siddique, T

Published Date

  • November 14, 2000

Published In

Volume / Issue

  • 55 / 9

Start / End Page

  • 1388 - 1390

PubMed ID

  • 11087788

Pubmed Central ID

  • 11087788

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.55.9.1388


  • eng

Conference Location

  • United States