Wernicke-Korsakoff syndrome associated with mtDNA disease.

INTRODUCTION: Wernicke encephalopathy (WE) and Wernicke-Korsakoff syndrome (WKS) are well-known disorders caused by thiamine deficiency. In addition to the classical concept of these diseases, some literature data suggest a connection between mitochondrial dysfunction and WE/WKS. Psychotic disorders and WKS seem to run in families, as the deficiency of the oxidative phosphorylation can be a trigger factor in psychotic events and WE/WKS as well. We present a patient harbouring the m.A3243G mtDNA mutation with the clinical and magnetic resonance imaging (MRI) findings of WKS who developed schizophrenia with predominantly negative symptoms some years later. CASE PRESENTATION: A 27-year-old woman was referred to our clinic with severe weight loss after severe vomiting episodes, memory dysfunction and gait ataxia. Family history, as well as clinical, imaging and laboratory findings suggested a mitochondrial aetiology of her symptoms. Brain MRI detected bilateral mild thalamic lesions and loss of corpus mammillae, indicating Wernicke encephalopathy. Genetic testing detected an m.A3243G mtDNA mutation, which has been frequently associated with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. High-dose vitamin B1 supplementation with supportive antioxidant therapy improved the patient's memory and learning disturbance; however, some months later she developed psychosis with predominantly negative symptoms and her cognitive functions deteriorated again. Both cognitive and negative symptoms responded well to cariprazine monotherapy. DISCUSSION: Mitochondrial disease due to mtDNA alteration can be a rare cause of WE. In addition to vitamin B1 supplementation, cariprazine with significant dopamine D3 receptor binding can be useful to treat the predominantly negative symptoms and cognitive dysfunction in patients with mitochondrial dysfunction. CONCLUSION: We assume that patients with a mitochondrial disorder might be prone to develop WE/WKS and therefore need tailored supportive therapy during metabolic crisis as well as symptom-based personalized antipsychotic treatment.

Risk of mental disorders, their changes and somatic consideration in rural Hungary.

OBJECTIVE: Although the primary purpose of the study reported here was to identify stroke risk factors among the residents of a village in eastern Hungary, the study also included a multi-faceted survey conducted in 1992-94 to ascertain the somatic, mental and socio-economic conditions of the residents. Here we report data from the survey on prevalence of mental disorders (a cross-sectional descriptive study). METHOD: The screenings included the following tests administered to 535 subjects: anxiety, depression, dementia, neurosis were measured; recent medical records were compared to survey data for 330 of the same subjects. FINDINGS: The summary of prevalence of mental disorders measured in this study was as follows: anxiety 34.7% (severe), dementia 44.68% (mild), depression 66% (mild), 15.94% (medium), 7.88% (severe), neurosis 66.73% (mild, medium, and severe). Medical records maintained by village physicians since 1960 differed from the results obtained in the present study. A treatment gap was observed between mental health treatment for neurosis, as indicated by medical records, and the diagnostic prevalence of neurosis as measured by the survey instruments: there were three times as many people diagnosed as neurotic in the survey as had been noted in village medical records. Additionally, the unique position of cerebrovascular alteration was established between the mental and somatic factors. CONCLUSION: The study demonstrates the successful simultaneous collection of a wide spectrum of data on somatic conditions, mental disorders, and socio-economic status of the subjects. The study showed that 1. patient-centered medical care can simultaneously address both somatic and mental factors; 2. it is possible to decrease the treatment gap in mental health; 3. there is value in systematic collection of data in order to optimize the planning of prevention, health care costs and decision making.

Developing multimedia software and virtual reality worlds and their use in rehabilitation and psychology.

The multimedia and virtual reality projects performed at our laboratory during the last ten years can be grouped into the following groups: 1) tutorial and entertainment programs for handicapped children, 2) rehabilitation programs for stroke patients and patients with phobias. We have developed multimedia software for handicapped children with various impairments: partial vision, hearing difficulties, locomotive difficulties, mental retardation, dyslexia etc. In the present paper we show the advantages of using multimedia software to develop mental skills in handicapped people and deal with the special needs of handicapped children. For the rehabilitation of stroke patients we have developed a computer-controlled method, which enables - contrary to methods used internationally - not only the establishment of a diagnosis, but also measurement of therapy effectiveness: 1) it enables us to produce a database of patients, which contains not only their personal data but also test results, their drawings and audio recordings, 2) it is in itself an intensive therapeutic test and contains tutorial programs. We are currently collecting test results. We have also developed some virtual worlds for treating phobias: a virtual balcony and a ten-story building with an external glass elevator as well as an internal glass elevator in the virtual Atrium Hyatt hotel. We have developed a virtual environment for treating claustrophobia too: a closed lift and a room where the walls can move. For specific phobias (fear of travelling) we have modelled the underground railway system in Budapest. For autistic children, we have developed virtual shopping software too. In this paper we present the advantages of virtual reality in the investigation, evaluation and treatment of perception, behaviour and neuropsychological disorders.

Development of a computer controlled cognitive diagnostics and rehabilitation method.

In this paper we introduce a computer controlled method (HELp Neuropsychology = HELEN) which enables - as a difference to methods used internationally--not only the establishment of the diagnosis, but permits measurement of the effectiveness of the therapy. It allows: --To produce a database of the patients that contains not only their personal data but also the results of the tests, their drawings and audio recordings. --It is an intensive therapeutic test, which contains tutorial programs too.