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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Aged
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Amyotrophic Lateral Sclerosis / complications
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Amyotrophic Lateral Sclerosis / epidemiology
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Amyotrophic Lateral Sclerosis / genetics*
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Cells, Cultured / ultrastructure
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Chromosome Banding
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Chromosome Disorders / epidemiology
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Chromosome Disorders / genetics*
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Chromosome Inversion*
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Dementia / complications
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Dementia / genetics
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Female
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Germany / epidemiology
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Humans
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Karyotyping
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Lymphocytes / ultrastructure
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Male
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Middle Aged
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Phenotype
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Translocation, Genetic*