A1 Refereed original research article in a scientific journal
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease
Authors: Sipilä Jussi OT, Kytövuori Laura, Kaasinen Valtteri
Publisher: ELSEVIER
Publication year: 2023
Journal: Journal of the Neurological Sciences
Journal name in source: JOURNAL OF THE NEUROLOGICAL SCIENCES
Journal acronym: J NEUROL SCI
Article number: 120620
Volume: 448
Number of pages: 4
ISSN: 0022-510X
DOI: https://doi.org/10.1016/j.jns.2023.120620
Web address : https://doi.org/10.1016/j.jns.2023.120620
Abstract
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.
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.
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