Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin brothers aged 56 years from a family with the p.R155C VCP gene mutation. The affected twin presented with a 10 year history of progressive proximal muscle weakness, difficulty swallowing, gastroesophageal reflux, fecal incontinence, and peripheral neuropathy. Comprehensive neuropsychological testing revealed rapid cognitive decline in the absence of any behavioral changes in a span of 1 year. This case illustrates that frontotemporal dementia related cognitive impairment may precede behavioral changes in VCP disease as compared with predominance of behavioral impairment reported in previous studies. Our findings suggest that there is a need to establish VCP disease specific tools and normative rates of decline to detect pre-clinical cognitive impairment among affected individuals.
|Number of pages||7|
|State||Published - Feb 1 2015|
Bibliographical noteFunding Information:
We would like to thank the family for their participation in this study and acknowledge the John Tu & Thomas Yuen Center for Functional Onco-Imaging. We would like to thank Dr. Steven Leven and Dr. Yoshioka from University of California, Irvine for their expertise. Funding for these studies is from the National Institutes of Health : Grant AR050236 (VK), Muscular Dystrophy Association and the UC Irvine ICTS (Institute of Clinical Translational Science) .
© 2014 Elsevier B.V.
- Frontotemporal dementia screening
- Inclusion body myopathy
- Multisystem proteinopathy
- Neuropsychological assessment
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology