| Autor: |
Schröder R; Department of Neurology, University Hospital Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany. rolf.schroeder@ukb.uni-bonn.de, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR |
| Jazyk: |
angličtina |
| Zdroj: |
Annals of neurology [Ann Neurol] 2005 Mar; Vol. 57 (3), pp. 457-61. |
| DOI: |
10.1002/ana.20407 |
| Abstrakt: |
Mutations in the valosin-containing protein (VCP) gene on chromosome 9p13-p12 recently have been shown to cause autosomal dominant inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia. Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding. We demonstrate that mutant VCP causes a novel type of frontotemporal dementia characterized by neuronal nuclear inclusions containing ubiquitin and VCP. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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