P48 Cutaneous biomarkers of amyotrophic lateral sclerosis: a systematic review
Aydan Rahmanova, Fergal Waldron, Jenna Gregory, Katie HannaAbstract
Introduction and aims
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative condition characterized by progressive loss of upper and lower motor neurons. ALS originates in the central nervous system, and unsurprisingly direct access to the tissue is limited. The well-established interrelationship between the skin and nervous system, rooted in their shared embryological origin, provides rationale for the skin as an accessible window into central nervous system pathology in ALS. Cutaneous changes in ALS remain an underexplored interface between dermatology and neurodegeneration and may hold potential for earlier diagnosis, disease monitoring and stratification.
Methods
This study systematically evaluated the current evidence on cutaneous biomarkers in ALS using PRISMA guidelines. The study assessed their potential as diagnostic and prognostic biomarkers.
Results
Our systematic review identified 49 papers that investigated structural and molecular alterations in the skin of individuals with ALS and across the disease course. These included mislocalization and aggregation of ALS-associated proteins, inflammatory and trophic dysregulation, extracellular matrix remodelling and peripheral neurovascular changes.
Conclusions
The skin represents a promising, noninvasive source of biomarkers with potential value in ALS diagnosis, monitoring of disease progression. Crucially, further investigation is needed to determine whether cutaneous changes emerge before clinical onset, opening the possibility of presymptomatic detection and earlier intervention.