title: High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
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.
authors.affiliation: Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany. thomas.meyer@charite.de
authors.forename: T
authors.initials: T
authors.lastname: Meyer
authors.forename: B
authors.initials: B
authors.lastname: Alber
authors.forename: K
authors.initials: K
authors.lastname: Roemer
authors.forename: T
authors.initials: T
authors.lastname: Martin
authors.forename: V M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: E
authors.initials: E
authors.lastname: Göttert
authors.forename: K D
authors.initials: KD
authors.lastname: Zang
authors.forename: A C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: H-H
authors.initials: HH
authors.lastname: Ropers
authors.forename: J
authors.initials: J
authors.lastname: Prudlo
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D002478:Cells, Cultured / Q000648:ultrastructure; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000453:epidemiology / Q000235:genetics*; D007446:Chromosome Inversion; D003704:Dementia / Q000150:complications / Q000235:genetics; D005260:Female; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D014178:Translocation, Genetic