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Table 1 Clinical and genetic study of psychiatric patients showing Cp < 0.18 g/L and serum Cu levels < 0.88 mg/L

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

Diagnosis Associated symptoms Cpa (g/L) Copperb (mg/L) Mutations in ATP7B gene
Schizophrenia (n = 13) Extrapyramidal syndrome (n = 3) 0.10–0.17 0.60–0.88 n = 2 heterozygous mutations p.His1069Gln c.3207C>A (ex14) (Tanzi 1993) and p.Thr1434Met c.4301C>T (ex 21) [34]
Bipolar disorders (n = 4) Extrapyramidal syndrome (n = 1) 0.15–0.17 0.72–0.88
ASD (n = 3) Extrapyramidal syndrome (n = 1) Kidney failure (n = 1) 0.14–0.18 0.65–0.86
Personality disorders (n = 3)   0.13–0.15 0.65–0.84 n = 1 p.Pro1379Ser c.4135C>T (ex 21) [22]
Neurological disorder (n = 2) Cerebral anoxia (MRI abnormalities in basal ganglia) (n = 1) 0.12–0.16 0.60–0.81 n = 1 p.Thr1434Met c.4301C>T (ex 21) [34]
Behavioral disorder (n = 1) Mild intellectual deficiency (n = 1) 0.15 0.80
Alcoholism (n = 1) 0.15 0.78
Anorexia nervosa (n = 1) 0.13 0.61
Depressive disorder (n = 1) 0.17 0.87
  1. ASD Autism spectrum disorders
  2. aCp (g/L), Normal values (NV) 0.18–0.32, borderline values (BV) 0.10–0.17, critical values (CV) ≤0.10
  3. bCopper (mg/L), NV 0.88–1.2, BV 0.50–0.87, CV ≤ 0.50