Erschienen in:
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
verfasst von:
Ida Elisabeth Holm, Adrian M. Isaacs, Ian R. A. Mackenzie
Erschienen in:
Acta Neuropathologica
|
Ausgabe 5/2009
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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]. …