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CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out...
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Published in: | American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-12, Vol.141B (8), p.944-946 |
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container_end_page | 946 |
container_issue | 8 |
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container_title | American journal of medical genetics. Part B, Neuropsychiatric genetics |
container_volume | 141B |
creator | Rizzu, Patrizia van Mil, Saskia E. Anar, Burcu Rosso, Sonia M. Kaat, Laura Donker Heutink, Peter van Swieten, John C. |
description | Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out in The Netherlands. Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations. © 2006 Wiley‐Liss, Inc. |
doi_str_mv | 10.1002/ajmg.b.30410 |
format | article |
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We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out in The Netherlands. Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4841</identifier><identifier>EISSN: 1552-485X</identifier><identifier>DOI: 10.1002/ajmg.b.30410</identifier><identifier>PMID: 16941655</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult and adolescent clinical studies ; Biological and medical sciences ; CHMP2B ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. 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Part B, Neuropsychiatric genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out in The Netherlands. Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations. © 2006 Wiley‐Liss, Inc.</description><subject>Adult and adolescent clinical studies</subject><subject>Biological and medical sciences</subject><subject>CHMP2B</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Endosomal Sorting Complexes Required for Transport</subject><subject>Female</subject><subject>frontotemporal dementia</subject><subject>Gene Frequency</subject><subject>Humans</subject><subject>Male</subject><subject>MAPT</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>mutation frequency</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Netherlands</subject><subject>Neurology</subject><subject>Organic mental disorders. Neuropsychology</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. 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subjects | Adult and adolescent clinical studies Biological and medical sciences CHMP2B Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia - genetics DNA Mutational Analysis Endosomal Sorting Complexes Required for Transport Female frontotemporal dementia Gene Frequency Humans Male MAPT Medical sciences Middle Aged Mutation - genetics mutation frequency Nerve Tissue Proteins - genetics Netherlands Neurology Organic mental disorders. Neuropsychology Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry |
title | CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia |
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