Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie

Mengel, David; Librizzi, Damiano; Schoser, Benedikt; Gläser, Dieter; Clemen, Christoph S.; Dodel, Richard und Schröder, Rolf (2018): Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie. In: Fortschritte der Neurologie Psychiatrie, Bd. 86, Nr. 7: S. 434-438

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).

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0720-4299
• Sprache: Deutsch