Citation

Surampalli A, Nalbandian A, Donkervoort S, Khare M, Wang A, et al. (2018) A Clinicopathologic Case Report of a Female with Valosin-Containing Protein (VCP) Gene Mutation Related Disease. Int J Neurodegener Dis 1:006. doi.org/10.23937/IJND-2017/1710006

Copyright

© 2018 Surampalli A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

CASE REPORT | OPEN ACCESS DOI: 10.23937/IJND-2017/1710006

A Clinicopathologic Case Report of a Female with Valosin-Containing Protein (VCP) Gene Mutation Related Disease

Abhilasha Surampalli1, Angèle Nalbandian1, Sandra Donkervoort1, Manaswitha Khare1, Annabel Wang2, Rudolph Castellani3, Hong Yin2, Ana Rubio3, Payal Patel1, John Weiss2, Tahseen Mozaffar2 and Virginia E Kimonis1*

1Division of Genetics and Metabolism, Department of Pediatrics, University of California-Irvine, USA

2Division of Neuromuscular Disorders, Department of Neurology, University of California, USA

3Department of Pathology, University of Maryland School of Medicine, USA

Abstract

Valosin Containing Protein (VCP) gene mutations have been reported in ~1-2% of familial amyotrophic lateral sclerosis (ALS). We report a case of clinically defined and neuropathologically confirmed ALS in a 48-year-old, emaciated female with a p.R155C (c.463 C > T) mutation in VCP gene. She presented with progressive generalized muscular weakness, weight loss, dyspnea on exertion, combined nasal and spastic dysarthria, positive jaw jerk and exaggerated gag reflex. Electrodiagnostic studies revealed involvement of both upper and lower motor neuron typical of generalized ALS. She died of fulminant ALS three years after onset of clinical features. Neuropathological examination revealed extensive spinal motor neuron degeneration with loss of spinal anterior horn cells, gliosis and mislocalization of TDP-43 positive inclusions. Bilateral lateral columns showed degeneration. No abnormalities were detected in the brainstem and cerebellar hemispheres except for occasional intraneuronal vacuolation in the medullary nuclei and Bunina bodies in the hypoglossal nucleus.