High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
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.
Meyer
T
T
Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany. thomas.meyer@charite.de
Alber
B
B
Roemer
K
K
Martin
T
T
Kalscheuer
V M
VM
Göttert
E
E
Zang
K D
KD
Ludolph
A C
AC
Ropers
H-H
HH
Prudlo
J
J
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