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Ann Gen Psychiatry. 2017 Apr 4;16:19. doi: 10.1186/s12991-017-0142-6. eCollection 2017.

Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

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GénoPsy, Center for the Detection and Management of Psychiatric Disorders of Genetic Origin, Pôle Ouest, Hôpital le Vinatier & UMR 5229 (CNRS & Lyon University), 95 Bld Pinel, 69677 Bron cedex, France.
National Reference Center for Wilson's disease, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Pharmaco-Toxicology, Biochemistry and Molecular Biology Unit, Hôpital Édouard Herriot, Hospices Civils de Lyon, Lyon, France.
Laboratory of Inherited Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France.
Neurology Unit C, Cognitive Neurosciences Center, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon; Claude Bernard-Lyon 1 University; CNRS UMR 5229, Bron, France.
Hôpital Saint Jean de Dieu, Lyon, France.
Hepato-Gastroenterology Department, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.
Gastroenterology, Hepatology and Pediatric Nutrition Department, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.



Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and diagnosis can be difficult to establish. The objectives of the present preliminary study were [1] to evaluate the relevance of serum copper (Cu) and ceruloplasmin (Cp) measures in hospitalized patients with psychiatric disorders; and [2] to identify possible mutations in the ATP7B gene in patients with abnormal biological copper profile.


All psychiatric patients who participated in this study were hospitalized in Saint-Jean de Dieu Hospital (Lyon, France). Cp was measured by immunoturbidimetry and serum Cu by inductively coupled plasma-optical emission spectrometry. When Cp and serum Cu levels were inferior to, respectively, 0.18 g/L and 0.88 mg/L in combination with atypical psychiatric presentations, complete clinical examinations were performed by multidisciplinary physicians specialized in WD. In addition, mutation detection in the ATP7B gene was performed.


A total of 269 patients completed the study. (1) 51 cases (19%) showed both decreased Cp and Cu concentrations. (2) Molecular genetic tests were performed in 29 patients, and one ATP7B mutation (heterozygous state) was found in four patients. We identified three different missense mutations: p.His1069Gln, c.3207C>A (exon 14), p.Pro1379Ser, c.4135C>T (exon 21) and p.Thr1434Met, c.4301C>T (exon 21). No pathogenic mutation on either ATP7B allele was detected.


Results of Cp and/or serum Cu concentrations below the normal limits are common in patients with psychiatric disorders and nonrelevant and/or informative for the WD diagnosis. WD diagnosis is based on a combination of clinical and biological arguments. Psychiatric patients with suspicion of WD should be evaluated in a reference center. Trial registration CPP Lyon Sud-Est IVNo 10/044, CNIL No DR-2011-470, Afssaps No B100832-40 and CCTIRS No 10.612 bis, registered 8 June 2010.


ATP7B gene; Alcohol abuse; Bipolar disorders; Ceruloplasmin; Copper chelators; Copper homeostasis; Etiopathogenesis; Inborn errors of metabolism; Mental diseases; Mental health; Psychiatric disorders; Schizophrenia; Serum copper; Treatable hereditary metabolic disorders; Wilson’s disease

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