The catechol-O-methyltranferase (COMT) is one of the main enzymes that metabolise dopamine in the brain. The Val158Met polymorphism in the COMT gene (rs4680) causes a trimodal distribution of high (Val/Val), intermediate (Val/Met) and low (Met/Met) enzyme activity. We tested whether the Val158Met polymorphism is a modifier of the age at onset (AAO) in Parkinson's disease (PD). The rs4680 was genotyped in a total of 16 609 subjects from five independent cohorts of European and North American origin (5886 patients with PD and 10 723 healthy controls). The multivariate analysis for comparing PD and control groups was based on a stepwise logistic regression, with gender, age and cohort origin included in the initial model. The multivariate analysis of the AAO was a mixed linear model, with COMT genotype and gender considered as fixed effects and cohort and cohort-gender interaction as random effects. COMT genotype was coded as a quantitative variable, assuming a codominant genetic effect. The distribution of the COMT polymorphism was not significantly different in patients and controls (p=0.22). The Val allele had a significant effect on the AAO with a younger AAO in patients with the Val/Val (57.1±13.9, p=0.03) than the Val/Met (57.4±13.9) and the Met/Met genotypes (58.3±13.5). The difference was greater in men (1.9 years between Val/Val and Met/Met, p=0.007) than in women (0.2 years, p=0.81). Thus, the Val158Met COMT polymorphism is not associated with PD in the Caucasian population but acts as a modifier of the AAO in PD with a sexual dimorphism: the Val allele is associated with a younger AAO in men with idiopathic PD.

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Background Gayet–Wernicke's encephalopathy (GWE) is a life-threatening neurological emergency caused by vitamin B1 deficiency. This is a rare complication, which may be reversible if managed promptly. However, any diagnostic or therapeutic delay exposes to the risk of serious sequelae. Although this pathology frequently occurs in chronic alcohol users, it can also occur in any situation of severe undernutrition. In this context, we report a case of GWE occurring after severe undernutrition complicating prolonged catatonia in a patient suffering from schizophrenia. Case presentation He was a 47-year-old patient, suffering from esophageal stenosis, and followed in psychiatry for schizophrenia, who was hospitalized for a catatonic relapse. He was put on benzodiazepine with parenteral rehydration. Faced with the persistence of food refusal, and the appearance of signs of undernutrition, a parenteral diet was introduced. The evolution was marked by the deterioration of his general and neurological condition, with the appearance of mental confusion. The examination showed a central vestibular syndrome, and brain magnetic resonance imaging showed a hyperintense signaling in the periaqueductal area, in mammillary bodies, and in medial thalamic nuclei on T2-FLAIR sequences. GWE was suspected and parental vitamin B1 therapy was initiated. Laboratory testing confirmed the diagnosis, showing a low thiamine blood level of 32 nmol/l [normal range: 78 to 185 nmol/l]. Regression of neurological symptoms was observed within 2 weeks of treatment. Conclusion Through this illustration, we draw the attention of the psychiatrist, who must think about preventing this complication, by supplementing any patient at risk of developing GWE with vitamin B1.

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