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- 相关神经退行性变(PLAN)的共识临床管理指南

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

作者信息

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

机构信息

Division of Pediatric Neurology, Oregon Health & Science University, Portland, OR, USA.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, United Kingdom.

出版信息

J Child Neurol. 2025 Jul;40(6):415-432. doi: 10.1177/08830738251323649. Epub 2025 Apr 22.

Abstract

This clinical guideline provides recommendations for the evaluation and management of individuals with 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.

摘要

本临床指南为伴有相关神经退行性变(PLAN)的个体的评估和管理提供建议。PLAN是一种伴有脑铁沉积的神经退行性疾病,有婴儿期起病(婴儿型神经轴索性营养不良)、青少年期起病和成年期起病等形式,伴有运动、认知、眼科和自主神经症状。本指南采用改良的德尔菲法制定,有PLAN专家和PLAN患者家庭成员参与。进行了文献检索,尽管缺乏数据,但建议仍基于专家意见。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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/befd/12084665/bf45aacec018/10.1177_08830738251323649-fig1.jpg

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