Objective: Correlate brain MRI features with the clinical phenotype and outcomes in chronically treated Wilson Disease (WD).

Background: Neurological WD is characterised by a variety of movement disorders. Several neuroimaging abnormalities were described. The correlation between clinical/MRI features and functional outcomes is unclear.

Method: WD patients were classified according to the presenting phenotype. Brain MRI at presentation was categorised according to abnormal features. Functional outcomes were measured by the Global Assessment Scale for WD (GASWD), World Health Organization Disability Assessment Schedule (WHODAS 2.0), Montreal Cognitive Assessment (MoCA) and Patient Health Questionnaire (PHQ).

Results: Twenty-seven patients were included, 14 females, with a mean age of onset of 19.5 (7.1) years. The presenting phenotype was hepatic in 12 and neurological in 10. Twenty-two patients developed neurological symptoms: 19 hyperkinetic and 12 hypokinetic. Brain MRI showed abnormal findings in 18 cases: 16 with T2 hyperintensities (mainly putaminal), 6 with T1 hypointensities and 5 with T1 hyperintensities.  Patients with exclusive extra-neurological involvement had fewer putaminal T2-hyperintensities (p=0.010) and fewer disability after a mean follow-up time of 20.9 (11.0) years (p=0.020).

The presence of hyperkinetic symptoms was associated with putaminal T2 hyper (p=0.008) and hypointensities (p=0.012) and mesencephalic T2 hyperintensities (p=0.012). The presence of hyperkinetic features was associated with reduced functional outcomes (p=0.016). Dysarthria was also associated with brainstem involvement in MRI (p=0.049), translating into increased disability (p=0.003). In patients with hyperkinetic symptoms, the presence of brainstem involvement was associated with disability (p=0.020). Hypokinetic symptoms were not associated with specific MRI features or functional status. In general, increased functional disability was associated with brain atrophy (p=0.007), diffusion abnormalities (p=0.013), and the number of T2 hyperintensities (p=0.002). T1 hyper/hypointensities were not associated with functional outcomes.

Conclusion: Patients with a neurological phenotype are associated with worse functional outcomes. A hyperkinetic phenotype with brainstem involvement is indicative of increased disability. Brain MRI may add prognostic information on the functional outcome of WD patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/correlation-between-neurological-phenotype-neuroimaging-and-clinical-outcome-in-a-single-centre-wilson-disease-cohort/