Consensus Clinical Management Guideline for <i>PLA2G6</i> -Associated Neurodegeneration (PLAN)
This clinical guideline provides recommendations for the evaluation and management of individuals with <i>PLA2G6-</i>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.
Authors
- Manju A. Kurian (ORCID: https://orcid.org/0000-0003-3529-5075)
- Amber Denton
- Patricia M. Wood
- Heather Massey (ORCID: https://orcid.org/0000-0002-7542-513X)
- D Duncan
- Megan Thomas (ORCID: https://orcid.org/0000-0002-3131-2176)
- Penelope Hogarth (ORCID: https://orcid.org/0000-0003-1328-6311)
- Nardo Nardocci (ORCID: https://orcid.org/0000-0001-5863-5592)
- Amanda Sargent
- Amanda Hope
- Audrey Soo (ORCID: https://orcid.org/0000-0003-2124-6731)
- Jenny L. Wilson (ORCID: https://orcid.org/0000-0001-6677-869X)
- Allison Gregory (ORCID: https://orcid.org/0000-0002-2296-9619)
- Natale A. Scalise
- Leena Panwala
- Giovanna Zorzi (ORCID: https://orcid.org/0000-0001-7041-5365)
- S. J. Hayflick
- Serena Bertoldi
- Matthew Ritzman
Institutions
- Oregon Health & Science University (US)
- Health Professionals Advancing LGBT Equality (US)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University College London (GB)
Publication Details
- Journal
- Journal of Child Neurology
- Published
- 2025-04-22
- DOI
- https://doi.org/10.1177/08830738251323649
- Citations
- 2
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 1.68
Funders
- NBIA Disorders Association