Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of

Background and Objectives: There is limited published evidence to guide the diagnosis and management of Methods: We used a modified Delphi process to systematically combine literature evidence with international experts' recommendations to determine best-practice clinical care guidelines in the areas of diagnosis, genetic testing, surveillance, and management. Results: Diagnosis: The diagnosis of ADLD should be considered in an individual with characteristic brain MRI findings and/or clinical symptoms of autonomic dysfunction, with or without a positive family history of autosomal dominant inheritance. The typical disease onset is insidious, followed by progression of manifestations.Genetic testing: The diagnosis of ADLD should be considered established in an individual with suggestive clinical and MRI findings, positive family history, and either a heterozygous pathogenic Discussion: Our consensus-based approach allowed us to formulate guideline recommendations in the setting of limited scientific evidence. Our analysis highlights the need for rigorous, collaborative studies on ADLD, including natural history studies, outcome assessments, and biomarker development, to improve our understanding and care of this devastating rare condition.