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Neurology 2000;55:1388-1391
© 2000 American Academy of Neurology
Brief Communications

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

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

From the Departments of Neurology (Drs. Hentati, Deng, Chen, Yang, Hung, Azim, Siddique, and H. Zhai) and Cell and Molecular Biology (Siddique) and the Northwestern Institute of Neurosciences, Northwestern University Medical School, Chicago, IL; the Department of Medicine (Dr. Bohlega), King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; the Department of Neurology (Dr. Tandan), University of Vermont College of Medicine, Burlington; the Dent Neurologic Institute and Department of Neurology (Dr. Warner), State University of New York at Buffalo; the Australian Neuromuscular Research Institute (Dr. Laing), Queen Elizabeth II Medical Centre, Nedlands, Western Australia; the Department of Neurology (Dr. Cambi), Thomas Jefferson University, Philadelphia, PA; the Neurological Institute (Dr. Mitsumoto), Columbia University, New York, NY; the Department of Neurology (Dr. Roos), University of Chicago, IL; the Division of Pediatric Neurology (Dr. Boustany), Duke University Medical Center, Durham, NC; and the Institut National de Neurologie (Dr. Hamida), Tunis, Tunisia.

Address correspondence and reprint requests to Dr. Teepu Siddique, Northwestern University Medical School, Tarry Building, Room 13-715, 300 East Superior St., Chicago, IL 60611; e-mail: t-siddique{at}nwu.edu

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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