[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy]. / Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie.
Fortschr Neurol Psychiatr
; 86(7): 434-438, 2018 07.
Article
em De
| MEDLINE
| ID: mdl-30029282
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).
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Base de dados:
MEDLINE
Assunto principal:
Osteíte Deformante
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Miosite de Corpos de Inclusão
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Distrofia Muscular do Cíngulo dos Membros
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Demência Frontotemporal
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Proteína com Valosina
Limite:
Aged
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Humans
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Male
Idioma:
De
Ano de publicação:
2018
Tipo de documento:
Article