Neurology Genetics· 2026Q2
Cryptic Presentations of Neurologic Wilson Disease With ATP7B Peptide Assessments
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- Q2SCImago
- 2026year
Short summary
ATP7B peptide testing via immuno-SRM-MS identified protein deficiency in 3 patients with varied neurologic Wilson disease (NWD) presentations, including Parkinsonism, dystonia, and misdiagnosed multiple sclerosis.
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Key points
- Three patients presented with diverse neurologic symptoms suggestive of Wilson disease (WD), including Parkinsonism, early-onset dystonia, and misdiagnosed multiple sclerosis.
- ATP7B peptide levels were markedly reduced or undetectable in all three patients, confirming WD.
- Immuno-selected reaction monitoring mass spectrometry (immuno-SRM-MS) was used for ATP7B peptide quantification.
- ATP7B peptide analysis serves as a rapid, noninvasive, and functionally informative diagnostic adjunct for NWD.
AI-generated from the title and abstract; the full text is not read.
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.
The authors' abstract, as published at the source. Neurology Genetics, 2026 · DOI ↗
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Field: Nutrition and Dietetics
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