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Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS
Author(s) -
Prudlo Johannes,
Alber Burkhard,
Kalscheuer Vera M.,
Roemer Klaus,
Martin Thomas,
Dullinger Joern,
Sittinger Helmut,
Niemann Stephan,
Heutink Peter,
Ludolph Albert C.,
Ropers Hilger H.,
Zang Klaus,
Meyer Thomas
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10822
Subject(s) - amyotrophic lateral sclerosis , frontotemporal dementia , chromosomal translocation , sod1 , dementia , genetics , chromosome 21 , biology , c9orf72 , gene , chromosome , medicine , disease , pathology
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.