Objective: To determine the Clinical and radiological spectrum of neurological Wilson’s disease (WD) and predictors of disease severity.

Background: Wilson’s Disease (WD) is autosomal recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B.  Neurological WD manifests with cognitive decline, drooling, extrapyramidal and pyramidal features. There is paucity of prospective studies in literature from Indian subcontinent looking on the predictors of severity of neurological WD.

Method: This was a prospective observational study conducted between December 2019 to October 2022. The diagnosis of WD was based on characteristic clinical findings, presence of KF ring on slit lamp examination, low serum ceruloplasmin level (<20mg/dl) and 24-hour urinary excretion of copper >40 µg/day. Disease severity was assessed using Global Assessment Scale for Wilson’s Disease (GAS for WD)

Results: 32 patients with neurologic WD were included in the study, of whom 20 (62.5%) were male. Median age of patients were 15 (11-19) years. Hand tremors and dysarthria were the most common presenting symptoms in 27 (84.4%) and 28 (87.5%) respectively. Cognitive impairment was noted in 8 (25%) patients. Personality changes and depression were seen in 6 (18.8%) and 12 (37.5%) respectively. Putamen and caudate nuclei abnormalities were the most common findings on neuroimaging (84.4% and 81.3%, respectively). Mean ± SD serum ceruloplasmin, 24-hour free copper excretion were 9.33± 4.43 mg/dl and 356.13± 269.43 ug/day respectively. Mean ± SD for TIER 1 and TIER 2 scale of GAS scale was 4.81± 2.6 and 23.46 ± 6.24 respectively.(Table 1)

Severity of Global disability of disease was significantly associated with history of jaundice (p=0.010, CI-1.057-3.72), cognitive impairment (p<0.000, CI-1.48-3.92) and features of chronic liver disease (p=0.005, CI- 0.835-4.17). Neurologically severe disease was significantly associated with generalized dystonia (p=0.044, CI- 1.44-10.43) and cerebral atrophy (p=0.034, CI- 0.39-9.17).(Table 2, 3)

Conclusion: Patients commonly presented in the second decade. Hand tremor was the most common presenting symptom. History of jaundice, cognitive impairment and features of chronic liver disease predicted severe global disability and presence of generalized dystonia and cerebral atrophy were predictors of neurologically severe disease

Table-1

Table 2

Table 3

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/clinico-radiological-spectrum-and-predictors-of-disease-severity-in-neurological-wilson-disease-a-single-center-observational-study/