High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.

Meyer, T; Alber, B; Roemer, K; Martin, T; Kalscheuer, V M; Göttert, E; Zang, K D; Ludolph, A C et al. · Neurology · 2003

case_series · Level IV

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Abstract

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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