Category: Rare Neurometabolic Movement Disorders
Objective: This study assesses the diagnostic efficacy of Leipzig’s (LZ) criteria in establishing the diagnosis of neurological type Wilson’s disease.
Background: Wilson’s Disease is a rare disorder of copper metabolism that may present with heterogeneous neurological features, making diagnosis challenging. The Leipzig Criteria for Wilson Disease are widely used for diagnosis, but their diagnostic efficacy in neurological Wilson’s disease remains to be fully assessed.
Method: This mixed retrospective and prospective, monocentric, cross-sectional study was undertaken in the Neurology Department of Jinnah Postgraduate Medical Centre (JPMC), Karachi, Pakistan. The statistical analysis was done using SPSS 26.0, and statistical significance was considered at a p-value ≤0.05.
Results: Of the 50 patients, 43 (86.0%) were male and 7 (14.0%) were female; the median age was 24.0. Of these, 43 patients had a clinical presentation along with a K-F ring, while 7 had an initial hepatic manifestation. The diagnosis was established using the LZ criteria; according to that, 42 (84.0%) of 50 participants scored 4 or above, while the score was 3 in 6 (12%) and 2 in 2 (4%) participants. The significant association of the K-F ring with Parkinsonism (p = 0.016), tremors (p = 0.025), and ceruloplasmin levels (p = 0.034), while non-significant with 24-hour Cu urine (p = 0.108), was observed. The chi-square test showed a significant association with LZ (p = 0.014), and linear regression with serum ceruloplasmin and 24-hour Cu urine yielded p = 0.001 and 0.042, respectively.
Conclusion: The LZ criteria served as a potential and handy diagnostic tool in the early recognition of Wilson’s disease, elucidating timely management. Hence, we recommend that physicians utilize this tool in their clinical practice so that they can seamlessly identify index cases.
To cite this abstract in AMA style:
S. Kumar, S. Shah, C. Kumari, M. Afzal, D. Kumar, N. Bullo. Establishing the Diagnosis of Wilson’s Disease using the Leipzig Criteria in Patients with Neurological Manifestation: A Single-Center Observation [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/establishing-the-diagnosis-of-wilsons-disease-using-the-leipzig-criteria-in-patients-with-neurological-manifestation-a-single-center-observation/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/establishing-the-diagnosis-of-wilsons-disease-using-the-leipzig-criteria-in-patients-with-neurological-manifestation-a-single-center-observation/