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01-11-2009 | Correspondence

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

Authors: Ida Elisabeth Holm, Adrian M. Isaacs, Ian R. A. Mackenzie

Published in: Acta Neuropathologica | Issue 5/2009

Excerpt

Frontotemporal dementia linked to chromosome 3 (FTD-3) is a very rare disease described in a large Danish family [1] and also in an unrelated Belgian patient with familial FTD [12]. A mutation has been identified in the CHMP2B gene that is likely responsible for causing the disease in the Danish family [9] and a different mutation was identified in the Belgian patient [12]. CHMP2B is a component of the endosomal sorting complex required for transport-III (ESCRT-III), which is involved in the degradation of proteins in the endocytic and autophagic pathways [10]. …

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Title: Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene
Authors: Ida Elisabeth Holm
Adrian M. Isaacs
Ian R. A. Mackenzie
Publication date: 01-11-2009
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 5/2009
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-009-0593-1

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Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

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