High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
case_series · Level IV
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- Record sourced from PubMed, PMID 12707441.
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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.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Chromosome Disorders
- Chromosome Inversion
- Translocation, Genetic