Chromosomal Translocation T(18;21)(Q23;Q22.1) Indicates Novel Susceptibility Loci For Frontotemporal Dementia With Als

J Prudlo, B Alber,Vm Kalscheuer, K Roemer,T Martin,J Dullinger, H Sittinger,S Niemann,P Heutink,Ac Ludolph, Hh Ropers, K Zang,T Meyer

Annals of neurology（2004）

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摘要

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 (SOD]) 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.

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