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Neurology 2003;60:1348-1350
© 2003 American Academy of Neurology


Brief Communications

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

T. Meyer, MD, B. Alber, MD, K. Roemer, PhD, T. Martin, MD, V.M. Kalscheuer, PhD, E. Göttert, PhD, K.D. Zang, MD, A.C. Ludolph, MD, H.-H. Ropers, MD and J. Prudlo, MD

From the Department of Neurology (Dr. Meyer), Charité University Hospital, Humboldt University, Berlin; Department of Neurology (Drs. Alber and Ludolph), University of Ulm; Departments of Virology (Dr. Roemer), Human Genetics (Drs. Martin, Göttert, and Zang), and Neurology (Dr. Prudlo), University Hospital, Homburg; and Max Planck Institute for Molecular Genetics (Drs. Kalscheuer and Ropers), Berlin, Germany.

Address correspondence and reprint requests to Dr. Thomas Meyer, Universitätsklinikum Charité, Neurologische Klinik, Augustenburger Platz 1, 13353 Berlin, Germany; e-mail: thomas.meyer{at}charite.de

Of 85 patients with ALS, the authors identified 3 patients with balanced translocations and 2 patients with pericentric inversions, all affecting distinct chromosomal loci. The high rate of constitutional aberrations (5.9%) suggests that ALS is, in part, associated with recombination-based rearrangements of genomic sequences.




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C. W. Noonan, M. C. White, D. Thurman, and L.-Y. Wong
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Neurology, April 12, 2005; 64(7): 1215 - 1221.
[Abstract] [Full Text] [PDF]




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