New data presented at ICNA/CNS 2020 have provided insights into the natural history of fatty acid hydroxylase neurodegeneration (FAHN).
FAHN, or SPG35, is an autosomal recessive neurodegenerative disorder characterized by a complex spastic-ataxic syndrome. According to Dr Sunita Venkateswaran of the University of Ottawa and the Children’s Hospital of Eastern Ontario in Ottawa, Canada, there is a clear need for understanding the natural history of rare disease like FAHN. “This would allow for identification of specific disease outcomes and biomarkers to allow for a better understanding of disease mechanisms and creating FAHN-specific guidelines, with the ultimate goal of drug development.”
Dr Venkateswaran and colleagues assessed the clinical characteristics and disease course in 34 children and adults with FAHN. Patients were identified through publications, international collaborations, and clinics and societies focusing on rare neurodegenerative disorders. Data were collected retrospectively and prospectively.
The key results were as follows: