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

doi:10.1212/wnl.55.9.1388

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

Neurology

Research output: Contribution to journal › Article › peer-review

57 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 language	English (US)
Pages (from-to)	1388-1390
Number of pages	3
Journal	Neurology
Volume	55
Issue number	9
DOIs	https://doi.org/10.1212/wnl.55.9.1388
State	Published - Nov 14 2000

ASJC Scopus subject areas

Clinical Neurology

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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., Hamida, M. B., Hentati, F., & Siddique, T. (2000). Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology, 55(9), 1388-1390. https://doi.org/10.1212/wnl.55.9.1388

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title = "Novel mutations in spastin gene and absence of correlation with age at onset of symptoms",

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.",

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

year = "2000",

month = nov,

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doi = "10.1212/wnl.55.9.1388",

language = "English (US)",

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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, Hamida, MB, Hentati, F & Siddique, T 2000, 'Novel mutations in spastin gene and absence of correlation with age at onset of symptoms', Neurology, vol. 55, no. 9, pp. 1388-1390. https://doi.org/10.1212/wnl.55.9.1388

TY - JOUR

T1 - Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

AU - Hentati, A.

AU - Deng, H. X.

AU - Zhai, H.

AU - Chen, W.

AU - Yang, Y.

AU - Hung, W. Y.

AU - Azim, A. C.

AU - Bohlega, S.

AU - Tandan, R.

AU - Warner, C.

AU - Laing, N. G.

AU - Cambi, F.

AU - Mitsumoto, H.

AU - Roos, R. P.

AU - Boustany, R. M.

AU - Hamida, M. Ben

AU - Hentati, F.

AU - Siddique, Teepu

PY - 2000/11/14

Y1 - 2000/11/14

N2 - 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.

AB - 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.

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AN - SCOPUS:0034649471

SN - 0028-3878

VL - 55

SP - 1388

EP - 1390

JO - Neurology

JF - Neurology

IS - 9

ER -

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

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