Objective: To understand the use of skin punch biopsies for diagnosis and management of α-synucleinopathy within a large medical system.

Background: Skin punch biopsy has been investigated as a minimally invasive tool to aid in the diagnosis of idiopathic Parkinson disease (PD) via detection of cutaneous phosphorylated α-synuclein. [1-3] However, the application of this tool in clinical practice and its impact on patient outcomes have not been well-characterized. This is important to understand as the field of Movement Disorders evolves toward biomarker-driven biological definitions of PD and related syndromes. [4]

Method: One-hundred thirty-one charts of patients who had undergone skin punch biopsies within a large medical system were reviewed. Patients > 40 years of age who had the biopsy to test for suspected α-synucleinopathy were included in the analysis. Demographic data and clinical evaluation data were reviewed alongside biopsy results.

Results: Of 131 patients, 62 (48%) met criteria for analysis. The majority of these patients identified as white (N=52, 84%) and non-Hispanic (N=57, 92%). The distribution of male versus female patients was roughly even (48% M, 52% F). Mean age at biopsy was 74.5 ± 7.9 years. 72% (N=44) were positive for phosphorylated α-synuclein in at least 1 skin sample and 54% (N=33) revealed abnormal intraepidermal nerve fiber density. Most were ordered due to clinical concern for idiopathic PD, but 24% (N=15) were ordered due to clinical concern for Lewy Body Dementia. For patients who had follow up visits, results appeared to change diagnosis and/or management approximately 56% of the time. The most common change in management included initiating or adjusting medication, often carbidopa-levodopa.

Conclusion: Skin punch biopsy is being used in some clinical contexts to more definitively diagnose idiopathic PD and related syndromes. In this cohort, biopsies were positive in almost 3/4 of cases and changes in diagnosis or management occurred more than half the time. A significant majority of patients identified as white and non-Hispanic, suggesting disparity in which patients have access to this out-of-pocket test. This study was limited by small sample size and reliance on at times scant medical records. Additional research is required to characterize clinical practices surrounding skin punch biopsy and associated health care disparities.

References: [1] Donadio, V., et al., Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease. Neurology, 2014. 82(15): p. 1362-9.

[2] Donadio, V., et al., In Vivo Diagnosis of Synucleinopathies: A Comparative Study of Skin Biopsy and RT-QuIC. Neurology, 2021. 96(20): p. e2513-e2524.

[3] Tsukita, K., et al., Value of in vivo α-synuclein deposits in Parkinson’s disease: A systematic review and meta-analysis. Mov Disord, 2019. 34(10): p. 1452-1463.

[4] Simuni, T., et al., A biological definition of neuronal α-synuclein disease: towards an integrated staging system for research. Lancet Neurol, 2024. 23(2): p. 178-190.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/utilization-of-skin-punch-biopsy-for-the-diagnosis-of-alpha-synucleinopathy-in-clinical-practice/