J Child Neurol. 2025 Apr 22:8830738251323649. doi: 10.1177/08830738251323649. Online ahead of print.
ABSTRACT
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.
PMID:40262088 | DOI:10.1177/08830738251323649
