Phenotypic variability in three families with valosin-containing protein mutation.

ABSTRACT:

Background and purpose

The phenotype of IBMPFD [inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein (VCP) mutation is described in three families.

Methods

Probands were identified based on a pathological diagnosis of frontotemporal lobar degeneration with TDP-43-positive inclusions type IV. VCP sequencing was carried out. Clinical data on affected family members were reviewed.

Results

Ohio family: four subjects presented muscle weakness and wasting. (One subject had both neuropathic and myopathic findings and another subject showed only evidence of myopathy. The etiology of weakness could not be ascertained in the remaining two subjects.) Two individuals also showed Parkinsonism (with a

SUBMITTER: Spina S 

PROVIDER: S-EPMC3734548 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature