VCP mutations were first associated with inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot–Marie–Tooth disease. Now, a new name, “multisystem proteinopathy (MSP)”, is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP: c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val).
A 79-year-old man presented to the emergency room with sudden onset of dysarthria followed by coma. Eight months before admission, he had undergone C1-C2 posterior fusion. Brain MRI showed multiple posterior circulation infarcts. He experienced resolution of symptoms after intravenous thrombolysis. CT angiography revealed the irregularity of the V3 segment of the right vertebral artery where the cervical screw contacted. Although the dual antiplatelet therapy with aspirin and clopidogrel had been started, he developed severe consciousness disturbance, quadriplegia, and decerebrate posturing to painful stimuli on the 24th hospital day. His eyes were fixed in the midline. Diffusionweighted imaging revealed a subtle hyperintense lesion in the pons, and MR angiography showed basilar artery occlusion. He underwent mechanical thrombectomy. Complete recanalization was achieved on the second attempt using a stent retriever, and the patient s condition recovered to pretreatment level. Heparin and cilostazol were started after the discontinuation of aspirin and clopidogrel. On the 52nd hospital day, the right vertebral artery sacrifice with coil embolization was performed to prevent recurrences. Cerebral infarction could occur as a long-term complication of C1-C2 posterior fusion. A vertebral artery injury at the site of cervical screw contact could be one of the causes of the complication. Endovascular parent artery occlusion should be considered in ischemic stroke patients who have vertebral artery legions after cervical spine surgery.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.