Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease

: Sipilä Jussi OT, Kytövuori Laura, Kaasinen Valtteri

Publisher: ELSEVIER

: 2023

: Journal of the Neurological Sciences

: JOURNAL OF THE NEUROLOGICAL SCIENCES

: J NEUROL SCI

: 120620

: 448

: 4

: 0022-510X

DOI: https://doi.org/10.1016/j.jns.2023.120620

: https://doi.org/10.1016/j.jns.2023.120620

Genotype-phenotype correlation data covering all ages of Wilson's disease onset in Caucasian patients are limited. We therefore analyzed genotype-phenotype correlations in a retrospective cohort of Finnish patients. Six homozygous (HoZ) and 11 compound heterozygous (CoHZ) patients were included. There were no differences in the presence/absence of hepatic, neurological, psychiatric or any symptoms at diagnosis (p > 0.30 for all) be-tween HoZ and CoHZ patients, but HoZ patients had an earlier age of diagnosis (median 6.7 versus 34.5; p = 0.003). Severe liver affliction was almost exclusively associated with the p.H1069Q variant. Patients with p. H1069Q had a later mean age of diagnosis (30.2 +/- 11.6 vs. 8.7 +/- 4.9 years; p < 0.001) compared to those without. There were no differences in the presence/absence of hepatic, neurological, psychiatric or any symp-toms at diagnosis between p.H1069Q-positive and p.H1069Q-negative patients (p > 0.54 for all). These results suggest that population-specific factors may partly explain the high clinical variability of Wilson's disease.