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