1. Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS
- Author
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Stephan Niemann, Burkhard Alber, Klaus Zang, Klaus Roemer, Thomas F. Meyer, Peter Heutink, Joern Dullinger, Johannes Prudlo, Hans-Hilger Ropers, Vera M. Kalscheuer, Thomas Martin, Albert C. Ludolph, and Helmut Sittinger
- Subjects
Chromosomes, Human, Pair 21 ,SOD1 ,Chromosomal translocation ,Biology ,Translocation, Genetic ,Superoxide Dismutase-1 ,mental disorders ,medicine ,Humans ,Gene silencing ,Dementia ,Amyotrophic lateral sclerosis ,Gene ,In Situ Hybridization, Fluorescence ,Genetics ,Reverse Transcriptase Polymerase Chain Reaction ,Superoxide Dismutase ,Amyotrophic Lateral Sclerosis ,Brain ,nutritional and metabolic diseases ,Chromosome ,medicine.disease ,Magnetic Resonance Imaging ,nervous system diseases ,Blotting, Southern ,Neurology ,Karyotyping ,Neurology (clinical) ,Chromosomes, Human, Pair 18 ,Tomography, Emission-Computed ,Frontotemporal dementia - Abstract
A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude the physical involvement and silencing of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1) on chromosome 21q22.1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS.
- Published
- 2003