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Families with Wilson's disease in subsequent generations: Clinical and genetic analysis
Author(s) -
Dzieżyc Karolina,
Litwin Tomasz,
Chabik Grzegorz,
Gramza Karolina,
Członkowska Anna
Publication year - 2014
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26057
Subject(s) - offspring , proband , wilson's disease , disease , population , cohort , medicine , demography , genetics , biology , pregnancy , mutation , environmental health , sociology , gene
Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients. Materials and Methods In February 2014, our registry included 760 cases of diagnosed Wilson's disease. We selected families in which Wilson's disease was diagnosed in the proband's offspring. Results Between 1957 and 2014, 1,050 relatives of affected members were screened. Wilson's disease in subsequent generations was observed in nine non‐consanguineous families, with 12 affected offspring from nine probands. Conclusion We detected a higher (4.08%) than expected (0.5%) frequency of Wilson's disease among proband offspring, which is in accordance with a recent genetic study in the United Kingdom that suggested a higher WD prevalence in the European population. © 2014 International Parkinson and Movement Disorder Society