RT Journal Article
SR Electronic
T1 Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1388
OP 1391
DO 10.1212/WNL.55.9.1388
VO 55
IS 9
A1 Hentati, A.
A1 Deng, H.-X.
A1 Zhai, H.
A1 Chen, W.
A1 Yang, Y.
A1 Hung, W.-Y.
A1 Azim, A.C.
A1 Bohlega, S.
A1 Tandan, R.
A1 Warner, C.
A1 Laing, N.G.
A1 Cambi, F.
A1 Mitsumoto, H.
A1 Roos, R.P.
A1 Boustany, R.-M.
A1 Hamida, M. Ben
A1 Hentati, F.
A1 Siddique, T.
YR 2000
UL http://n.neurology.org/content/55/9/1388.abstract
AB Article 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.