Trujillo, Paula; Mann, Leah; Bellaire, Bailey; Freeman, Roy; Levine, Todd; Gibbons, Christopher H.; Cooper, Amy; Wong, Cynthia; Stamler, David; Claassen, Daniel O. (2026).听.听Clinical Autonomic Research.听
Multiple system atrophy (MSA) is a progressive neurological disorder that affects movement and automatic body functions such as blood pressure control. This study followed 17 people with MSA for one year to examine phosphorylated alpha-synuclein, an abnormal protein found in skin nerves. Levels of this protein increased over time and were associated with greater problems in blood pressure regulation and other autonomic symptoms. Skin biopsy results also detected the abnormal protein in two participants whose cerebrospinal fluid tests were negative. These findings suggest that skin biopsies could provide a minimally invasive way to help diagnose MSA, monitor its progression, and identify participants for clinical trials.
Fig.听1
Participant enrollment and classification flow diagram. A total of 23 participants were screened for study inclusion, among whom five were excluded during screening due to advanced multiple system atrophy (MSA) or incidental magnetic resonance imaging findings. Eighteen participants were enrolled, of whom one withdrew prior to follow-up. Seventeen participants completed the 12-month follow-up visit. Final diagnostic classifications based on longitudinal clinical assessments and biomarker data included MSA (n聽鈥�=鈥�10 patients), Parkinson鈥檚 disease or dementia with Lewy bodies (PD/DLB,听n鈥�=鈥�5), and inconclusive diagnosis (n鈥�=鈥�2)