pla2g6相关神经变性（PLAN）的共识临床管理指南。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Journal of Child Neurology Pub Date : 2025-04-22 DOI:10.1177/08830738251323649

Jenny L Wilson, Audrey K S Soo, Allison Gregory, Nardo Nardocci, Giovanna Zorzi, Matthew Ritzman, Amanda Hope, David W Duncan, Megan Thomas, Serena Bertoldi, Natale A Scalise, Patricia Wood, Heather Massey, Amber Denton, Amanda Sargent, Leena Panwala, Penelope Hogarth, Manju A Kurian, Susan J Hayflick

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引用次数: 0

摘要

本临床指南为pla2g6相关神经退行性变（PLAN）患者的评估和管理提供了建议。PLAN是一种伴有脑铁积累障碍的神经退行性疾病，表现为婴儿起病（婴儿神经轴突营养不良）、青少年起病和成人起病，伴有运动、认知、眼部和自主神经症状。该指南是根据计划生育专家和计划生育患者家庭成员的意见，采用改进的德尔菲过程制定的。虽然没有数据，但还是进行了文献检索，建议是基于专家意见的。该指南包含关于诊断方法、疾病特异性治疗和基于症状的管理的建议。

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Consensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN).

This clinical guideline provides recommendations for the evaluation and management of individuals with PLA2G6-associated neurodegeneration (PLAN). PLAN, a neurodegeneration with brain iron accumulation disorder, presents with infantile-onset (infantile neuroaxonal dystrophy), juvenile-onset, and adult-onset forms with motor, cognitive, ophthalmologic, and autonomic symptoms. This guideline was developed using a modified Delphi process with input from PLAN experts and family members of individuals with PLAN. A literature search was performed, although in the absence of data, recommendations were based on expert opinion. The guideline contains recommendations on diagnostic approach, disease-specific treatment, and symptom-based management.

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来源期刊

Journal of Child Neurology 医学-临床神经学

CiteScore

4.20

自引率

5.30%

发文量

111

审稿时长

3-6 weeks

期刊介绍： The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.