Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy

Mengel D, Librizzi D, Schoser B, Glaeser D, Clemen CS, Dodel R, Schröder R (2018)

Publication Type: Journal article

Publication year: 2018

Journal

Fortschritte der Neurologie - Psychiatrie Georg Thieme Verlag

Book Volume: 86

Pages Range: 434-438

Journal Issue: 7

DOI: 10.1055/s-0044-101033

Abstract

Mutations of the human VCP gene, which encodes the V: alosin C: ontaining P: rotein (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 (I: nclusion B: ody M: yopathie with P: aget Disease of the Bones and F: ronto-temporal D: ementia).

Authors with CRIS profile

Rolf Schröder Professur für Neuropathologie

Involved external institutions

Philipps-Universität Marburg DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) genetikum – Genetische Beratung & Diagnostik DE Germany (DE) Ruhr-Universität Bochum (RUB) DE Germany (DE)

How to cite

APA:

Mengel, D., Librizzi, D., Schoser, B., Glaeser, D., Clemen, C.S., Dodel, R., & Schröder, R. (2018). Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy. Fortschritte der Neurologie - Psychiatrie, 86(7), 434-438. https://dx.doi.org/10.1055/s-0044-101033

MLA:

Mengel, David, et al. "Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy." Fortschritte der Neurologie - Psychiatrie 86.7 (2018): 434-438.

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