Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

S.G. Lindquist; H. Braedgaard; K. Svenstrup; A.M. Isaacs; J.E. Nielsen

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

S.G. Lindquist, H. Braedgaard, K. Svenstrup, A.M. Isaacs, J.E. Nielsen

Medical Genetics Program

27 Citations (Scopus)

Abstract

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
Udgivelsesdato: 2008/7

Original language	English
Journal	European Journal of Neurology
Volume	15
Issue number	7
Pages (from-to)	667-670
Number of pages	3
ISSN	1351-5101
Publication status	Published - 2008

Cite this

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title = "Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family",

abstract = "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 Udgivelsesdato: 2008/7",

author = "S.G. Lindquist and H. Braedgaard and K. Svenstrup and A.M. Isaacs and J.E. Nielsen",

year = "2008",

language = "English",

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journal = "European Journal of Neurology",

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TY - JOUR

T1 - Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

AU - Lindquist, S.G.

AU - Braedgaard, H.

AU - Svenstrup, K.

AU - Isaacs, A.M.

AU - Nielsen, J.E.

PY - 2008

Y1 - 2008

N2 - 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 Udgivelsesdato: 2008/7

AB - 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 Udgivelsesdato: 2008/7

M3 - Journal article

SN - 1351-5101

VL - 15

SP - 667

EP - 670

JO - European Journal of Neurology

JF - European Journal of Neurology

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ER -