Mengel, David, Librizzi, Damiano, Schoser, Benedikt, Glaeser, Dieter, Clemen, Christoph S., Dodel, Richard and Schroeder, Rolf (2018). Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy. Forschritte Neurol. Psychiatr., 86 (7). S. 434 - 439. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3522
Full text not available from this repository.Abstract
Mutations of the human VCP gene, which encodes the Valosin Containing Protein (synonyms: p97, TER ATPase), are associated with various multi-systemic protein aggregation diseases. We report on a patient with progressive myopathy and incipient cognitive deficits. A diagnostic muscle biopsy revealed an inclusion body myopathy with protein aggregates. Magnetic resonance imaging and F18-positron-emission-tomography disclosed a fronto-temporal atrophy and glucose hypometabolism of the frontal and temporal lobes, respectively. Based on the clinical findings, a genetic analysis was performed which revealed a heterozygous c.277C>T (p.Arg93Cys) mutation of the VCP gene, thus confirming the diagnosis of IBMPFD (Inclusion Body Myopathie with Paget Disease of the Bones and Fronto-temporal Dementia).
| Item Type: | Journal Article | ||||||||||||||||||||||||||||||||
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| URN: | urn:nbn:de:hbz:38-181328 | ||||||||||||||||||||||||||||||||
| DOI: | 10.1055/s-0044-101033 | ||||||||||||||||||||||||||||||||
| Journal or Publication Title: | Forschritte Neurol. Psychiatr. | ||||||||||||||||||||||||||||||||
| Volume: | 86 | ||||||||||||||||||||||||||||||||
| Number: | 7 | ||||||||||||||||||||||||||||||||
| Page Range: | S. 434 - 439 | ||||||||||||||||||||||||||||||||
| Date: | 2018 | ||||||||||||||||||||||||||||||||
| Publisher: | GEORG THIEME VERLAG KG | ||||||||||||||||||||||||||||||||
| Place of Publication: | STUTTGART | ||||||||||||||||||||||||||||||||
| ISSN: | 1439-3522 | ||||||||||||||||||||||||||||||||
| Language: | German | ||||||||||||||||||||||||||||||||
| Faculty: | Unspecified | ||||||||||||||||||||||||||||||||
| Divisions: | Unspecified | ||||||||||||||||||||||||||||||||
| Subjects: | no entry | ||||||||||||||||||||||||||||||||
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| Refereed: | Yes | ||||||||||||||||||||||||||||||||
| URI: | http://kups.ub.uni-koeln.de/id/eprint/18132 |
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