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Abstract：
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget\'s disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups. Interestingly, two patients with previously undiagnosed PDB had positive diagnostic findings on the bone scan and subsequent radiograph imaging. Among the individuals with PDB, increased radiotracer uptake of the affected bones were of typical distribution as seen in conventional PDB and those reported in other MSP1 cohorts which are the thoracic spine and ribs (75%), pelvis (75%), shoulder (75%) and calvarium (15%). Overall, we show that technetium-99m bone scans done at regular intervals are a sensitive screening tool in patients with MSP1 associated VCP variants at risk for PDB. However, diagnostic confirmation should be coupled with clinical history, biochemical analysis, and skeletal radiographs to facilitate early treatment and prevention complications, acknowledging its limited specificity.
摘要：
多系统蛋白病1（MSP1）疾病是一种罕见的遗传性疾病，由含Valosin蛋白（VCP）基因突变引起，具有包涵体肌病（IBM）的临床特征，额颞叶痴呆(FTD),和佩吉特骨病(PDB)。我们对12例患者（6例女性，6名男性)证实VCP基因突变，其中6名(50%)仅有肌病，四个（33%）同时患有PDB和肌病，两名(15%)是症状前携带者。我们的目标是在诊断个体中表征PDB，并可能在肌病和症状前组中识别PDB。有趣的是,两名先前未确诊的PDB患者在骨扫描和随后的X线影像检查中发现阳性.在PDB的个人中，受影响骨骼的放射性示踪剂摄取增加具有典型分布，如常规PDB和其他MSP1队列中报告的胸椎和肋骨（75％），骨盆（75%），肩（75％）和颅骨（15％）。总的来说,我们表明,对于有PDB风险的MSP1相关VCP变异体患者,定期定期进行tech-99m骨扫描是一种敏感的筛查工具.然而,诊断确认应与临床病史相结合，生化分析,和骨骼X光片，以促进早期治疗和预防并发症，承认其有限的特殊性。
