Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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开发含缬沙素蛋白相关多系统蛋白病患者的标准治疗。
DOI：
10.1186/s13023-022-02172-5
复制
发表时间：
2022-01-29
影响因子：
3.7
通讯作者：
VCP Standards of Care Working Group
中科院分区：
文献类型：
--
作者：
Korb M;Peck A;Alfano LN;Berger KI;James MK;Ghoshal N;Healzer E;Henchcliffe C;Khan S;Mammen PPA;Patel S;Pfeffer G;Ralston SH;Roy B;Seeley WW;Swenson A;Mozaffar T;Weihl C;Kimonis V;VCP Standards of Care Working Group
含瓦洛辛蛋白（VCP）相关的多系统蛋白病（MSP）是一种罕见的遗传性疾病，其可导致多种表型的多系统受累，包括包涵体肌病、佩吉特骨疾病（PDB）、额颞叶痴呆（FTD）、帕金森综合征和肌萎缩侧索硬化（ALS）等。一个由40多名神经肌肉疾病、痴呆、运动障碍、心理学、心脏病学、肺病学、物理治疗、职业治疗、言语和语言病理学、营养学、遗传学、综合医学和内分泌学专家组成的国际多学科联盟由患者倡导组织Cure VCP Disease召集，2020年12月，为这种异质性和诊断不足的疾病制定护理标准。为了实现这一目标，工作组合作在10个关键领域产生专家共识建议：遗传诊断、肌病、FTD、PDB、ALS、夏科玛丽牙病（CMT）、帕金森综合征、心肌病、肺病、支持疗法、营养和补充剂以及心理健康。2021年4月，通过建立共识的技术促进了对每个工作组结论的讨论，最终就VCP患者的拟议护理标准达成了一致。建议及时转诊到专业神经肌肉中心，以帮助通过已知家族性VCP变异的单基因检测或未分化病例的多基因面板测序来有效诊断VCP MSP。此外，定期和持续的多学科团队随访对于主动筛查和继发性并发症的管理至关重要。我们联盟的目标是提高对VCP MSP的认识，加快准确诊断的时间，确定患者护理中的差距和不平等，启动适当的药物治疗和支持疗法以实现最佳管理，并提升国际多学科护理的推荐最佳实践指南。 在线版本包含补充材料，可通过10.1186/s13023-022-02172-5获得。
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group’s conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally. The online version contains supplementary material available at 10.1186/s13023-022-02172-5.
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DOI：
10.1016/s1474-4422(12)70320-4
发表时间：
2013-02
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Boxer AL;Knopman DS;Kaufer DI;Grossman M;Onyike C;Graf-Radford N;Mendez M;Kerwin D;Lerner A;Wu CK;Koestler M;Shapira J;Sullivan K;Klepac K;Lipowski K;Ullah J;Fields S;Kramer JH;Merrilees J;Neuhaus J;Mesulam MM;Miller BL
通讯作者：
Miller BL
全基因组关联研究将CSF1，OPTN和TNFRSF11A的变体确定为Paget骨骼疾病的遗传危险因素。
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
3.5
作者：
Al-Obeidi E;Al-Tahan S;Surampalli A;Goyal N;Wang AK;Hermann A;Omizo M;Smith C;Mozaffar T;Kimonis V
通讯作者：
Kimonis V
影响因子：
--
作者：
Jerath NU;Crockett CD;Moore SA;Shy ME;Weihl CC;Chou TF;Grider T;Gonzalez MA;Zuchner S;Swenson A
通讯作者：
Swenson A
影响因子：
3.7
作者：
Ikenaga C;Findlay AR;Seiffert M;Peck A;Peck N;Johnson NE;Statland JM;Weihl CC
通讯作者：
Weihl CC