A Clinicopathologic Case Report of a Female with Valosin-Containing Protein (VCP) Gene Mutation Related Disease
International Journal of Neurodegenerative Disorders(2018)
摘要
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.
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