Neurologic Presentations in Three Human Cases of Wilson Disease
In a case series of three individuals with suspected neurologic Wilson disease (NWD), diverse presentations were observed. One adult had Parkinson disease features, a child had early-onset dystonia and neuropsychiatric symptoms, and another adult was misdiagnosed with multiple sclerosis. ATP7B peptide testing showed marked reductions or undetectable levels, confirming Wilson disease in these cases.
- Tags
- #MSResearch
- Most relevant to
- —
- Human efficacy
- Not established from this source
- Mechanism
- Other
- Evidence strength
- Limited
- Outcome
- Not reported
Why it matters
These findings highlight the complexity of diagnosing NWD and suggest that ATP7B peptide analysis can be a useful, noninvasive diagnostic tool.
What this does not prove
The study is limited by its small sample size and may not represent broader populations, emphasizing the diagnostic challenges of NWD.
Next milestone
No next milestone was established from the available source.
Study facts
- Study design
- Case report
- Participants / samples
- 3 · basis not reported
- Randomised
- Not reported
- Controlled
- Not reported
- Primary endpoint met
- Not reported
- Relevant MS type
- Not reported
- Publication date
- 2026-11-02
- Evidence reviewed
- Abstract only
- Regulatory approval
- Not reported
- Research areas
- Not classified
- Biological target
- ATP7B
- Pathway
- Not reported
- Population
- 3 individuals with suspected neurologic Wilson disease exhibiting various presentations
- Size of effect
- Not reported
- Secondary endpoints
- Not reported
- MRI endpoints
- Not reported
- Biomarkers
- Not reported
- Safety
- Not reported
Original sources
- Primary evidenceCryptic Presentations of Neurologic Wilson Disease With ATP7B Peptide Assessments. ↗DOI: 10.1212/nxg.0000000000200421
Supporting passages (10)
study designWe conducted a case series analysis of 3 individuals with suspected NWD.
sample size3 individuals with suspected NWD
limitationsThese cases emphasize the diagnostic complexity of NWD.
mechanismsATP7B 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.
biological targetsATP7B
populationRESULTS: 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.
findingsRESULTS: 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.
publication datePublication date: 2026-11-02
peer reviewedPublication types: Journal Article
subjectsMETHODS: We conducted a case series analysis of 3 individuals with suspected NWD.
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