Article
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
Neurology - 14 Nov 2000
Hentati A, Deng H X, Zhai H, Chen W, Yang Y, Hung W Y, Azim A C, Bohlega S, Tandan R, Warner C, Laing N G, Cambi F, Mitsumoto H, Roos R P, Boustany R M, Ben Hamida M, Hentati F, Siddique T
Abstract excerpt
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...
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