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Frontotemporal dementia linked to chromosome 3 (FTD‐3) – current concepts and the detection of a previously unknown branch of the Danish FTD‐3 family
Author(s) -
Lindquist S. G.,
Brændgaard H.,
Svenstrup K.,
Isaacs A. M.,
Nielsen J. E.
Publication year - 2008
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2008.02144.x
Subject(s) - frontotemporal dementia , dementia , medicine , danish , disease , mutation , family history , psychiatry , genetics , gene , pathology , biology , linguistics , philosophy
Background: Among patients with onset of dementia below the age of 65 years, frontotemporal dementia (FTD) is the second most prevalent cause, secondary only to Alzheimer’s disease. Recent advances in understanding the heterogeneous genetic background for different clinical and neuropathological entities of FTD have involved identification of several new causative genes. Methods and results: We report the finding of a truncating mutation in the CHMP2B gene (c.532‐1G>C) in a patient with early onset dementia. The patient was previously not known to be related to the single Danish pedigree known to have this specific mutation. Subsequently he has turned out to represent a new branch of the family with several affected individuals. Discussion: Our findings highlight the need for awareness of the CHMP2B mutation and associated clinical phenotype for neurological assessment in Denmark. Further, we discuss recent advances and current concepts in the understanding of CHMP2B ‐related dementia.