A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Abhilasha Surampalli; Brian T. Gold; Charles Smith; Rudy J. Castellani; Manaswitha Khare; Hon Yu; Celeste Nguyen; Mary Lan; Marie Wencel; Sharon Wigal; Vince Caiozzo; Virginia Kimonis

doi:10.1016/j.nmd.2014.10.003

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Abhilasha Surampalli, Brian T. Gold, Charles Smith, Rudy J. Castellani, Manaswitha Khare, Hon Yu, Celeste Nguyen, Mary Lan, Marie Wencel, Sharon Wigal, Vince Caiozzo, Virginia Kimonis

Neuroscience

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	177-183
Number of pages	7
Journal	Neuromuscular Disorders
Volume	25
Issue number	2
DOIs	https://doi.org/10.1016/j.nmd.2014.10.003
State	Published - Feb 1 2015

Bibliographical note

Publisher Copyright:
© 2014 Elsevier B.V.

Funding

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) .

Funders	Funder number
UC Irvine ICTS
National Institutes of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases	R01AR050236
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Muscular Dystrophy Association
Indiana Clinical and Translational Sciences Institute

Keywords

Frontotemporal dementia screening
Inclusion body myopathy
Multisystem proteinopathy
Neuropsychological assessment
VCP

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/j.nmd.2014.10.003

Cite this

Surampalli, A., Gold, B. T., Smith, C., Castellani, R. J., Khare, M., Yu, H., Nguyen, C., Lan, M., Wencel, M., Wigal, S., Caiozzo, V., & Kimonis, V. (2015). A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation. Neuromuscular Disorders, 25(2), 177-183. https://doi.org/10.1016/j.nmd.2014.10.003

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abstract = "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.",

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Surampalli, A, Gold, BT, Smith, C, Castellani, RJ, Khare, M, Yu, H, Nguyen, C, Lan, M, Wencel, M, Wigal, S, Caiozzo, V & Kimonis, V 2015, 'A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation', Neuromuscular Disorders, vol. 25, no. 2, pp. 177-183. https://doi.org/10.1016/j.nmd.2014.10.003

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A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Abstract

Bibliographical note

Funding

Keywords

ASJC Scopus subject areas

Access to Document

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