New Study Evaluates Skin Biopsy Testing in Patients With Recent-Onset Cognitive Decline
A new study published in Annals of Clinical and Translational Neurology examined the use of skin biopsy testing for phosphorylated alpha-synuclein (P-SYN) to diagnose recent onset (<18 months) dementia with Lewy bodies (DLB). DLB can be difficult to distinguish clinically from other neurological disorders featuring cognitive decline, like Alzheimer’s disease (AD) or Frontotemporal dementia (FTD). The diagnosis is further complicated because diagnostic accuracy is particularly low in the early stages of disease. A reliable biomarker that allows for early and accurate diagnoses is greatly needed to improve confidence in early intervention decisions.
In this multicenter, prospective cohort study, researchers looked at 19 patients with recent onset (<18 months) mild or major cognitive impairment. Patients then underwent an in-depth clinical workup, including imaging, skin biopsy testing for P-SYN, and other clinical tests to assess amyloid and tau pathology at baseline, with repeat measurements taken at 18-month follow-up.
Of the 19 patients included in the cohort for follow up, 4 received a diagnosis of DLB, with an additional patient having DLB with an Alzheimer’s disease co-occurrence. All 5 patients with confirmed diagnoses of DLB had positive results with skin biopsy testing for P-SYN, while all other patients were negative.
“These preliminary data suggest a useful role of this technique also in differential diagnosis, especially when the clinical picture is complex and makes it difficult to distinguish DLB from other disorders characterized by cognitive decline,” the authors conclude, noting that the results need to be confirmed in a larger sample.
