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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amyotrophic Lateral Sclerosis / complications
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / physiopathology
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Blotting, Southern
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Brain / pathology*
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Chromosomes, Human, Pair 18
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Chromosomes, Human, Pair 21
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Dementia / complications
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Dementia / genetics*
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Dementia / physiopathology
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Humans
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In Situ Hybridization, Fluorescence
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Karyotyping
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Magnetic Resonance Imaging
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Reverse Transcriptase Polymerase Chain Reaction
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Superoxide Dismutase / genetics
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Superoxide Dismutase-1
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Tomography, Emission-Computed
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Translocation, Genetic*
Substances
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SOD1 protein, human
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Superoxide Dismutase
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Superoxide Dismutase-1