High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

被引:16
作者
Meyer, T
Alber, B
Roemer, K
Martin, T
Kalscheuer, VM
Göttert, E
Zang, KD
Ludolph, AC
Ropers, HH
Prudlo, J
机构
[1] Humboldt Univ, Charite Univ Hosp, Dept Neurol, Berlin, Germany
[2] Univ Ulm, Dept Neurol, D-89069 Ulm, Germany
[3] Univ Hosp, Dept Virol, Homburg, Germany
[4] Univ Hosp, Dept Human Genet, Homburg, Germany
[5] Univ Hosp, Dept Neurol, Homburg, Germany
[6] Max Planck Inst Mol Genet, Berlin, Germany
关键词
D O I
10.1212/01.WNL.0000055088.52681.F1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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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页码:1348 / 1350
页数:3
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