Year: 2026
Type: article
Study design: Case Report
Abstract: Objectives: To illustrate the phenotypic variability in neurologic Wilson disease (NWD) and diagnostic value of ATP7B peptide testing in resolving WD cases. Methods: We conducted a case series analysis of 3 individuals with suspected NWD. Clinical presentation, diagnostic workup including traditional biomarkers, genetic testing, and ATP7B peptide quantification by immuno-selected reaction monitoring mass spectrometry were reviewed. Results: The 3 patients demonstrated diverse neurologic presentations: (1) an adult with coexisting Parkinson disease and WD, exhibiting parkinsonian features with partial response to dopaminergic therapy; (2) a child with early-onset dystonia and neuropsychiatric symptoms; and (3) an adult initially misdiagnosed with multiple sclerosis. In these cases, ATP7B peptide testing revealed either markedly reduced or undetectable levels, confirming WD. Discussion: These cases emphasize the diagnostic complexity of NWD. ATP7B peptide analysis via immuno-SRM-MS provided direct evidence of ATP7B protein deficiency and confirmed variant pathogenicity demonstrating its use as a rapid, noninvasive, functionally informative diagnostic adjunct. As the assay is further validated and piloted for newborn screening, it holds promise for improving early detection and clinical outcomes in WD.
Source: Neurology Genetics
Institutions: Seattle Children's Hospital, University of California, San Francisco, University of Washington, Children's Hospital Colorado, Revvity (United States), University of Colorado Anschutz, University of Colorado Denver, Seattle Children's Research Institute, VA Puget Sound Health Care System
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W7224819044