scholarly journals Wernicke–Korsakoff syndrome associated with mtDNA disease

2020 ◽  
Vol 13 ◽  
pp. 175628642093897
Author(s):  
Idris Janos Jimoh ◽  
Barbara Sebe ◽  
Peter Balicza ◽  
Mariann Fedor ◽  
Ilona Pataky ◽  
...  
Keyword(s):  
Mitochondrial Dysfunction ◽  
Negative Symptoms ◽  
Brain Mri ◽  
Mitochondrial Disorder ◽  
Vitamin B1 ◽  
Antipsychotic Treatment ◽  
High Dose ◽  
Wernicke Encephalopathy ◽  
Mtdna Mutation ◽  
Korsakoff Syndrome

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.

scholarly journals CONFABULATIONS IN A CHRONIC ALCOHOLIC- A SUBTLE PRESENTATION OF KORSAKOFF SYNDROME

2019 ◽  
Vol 7 (7) ◽  
pp. 58-60
Author(s):  
Yan Leyfman
Keyword(s):  
Case Report ◽  
Alcohol Abuse ◽  
Retrograde Amnesia ◽  
Vitamin B1 ◽  
Wernicke Encephalopathy ◽  
Chronic Alcoholic ◽  
Present Case Report ◽  
Personality Changes ◽  
Korsakoff Syndrome ◽  
Vitamin B1 Deficiency

Wernicke Encephalopathy is an acute neuropsychiatric condition, characterized by confusion, nystagmus, ataxia, and ophthalmoplegia, resulting from thiamine (Vitamin B1) deficiency, typically secondary to alcohol abuse. Failure to properly diagnose, which occurs in 80% of the time, can result in gradual progression to irreversible Korsakoff Syndrome, characterized by irreversible personality changes, and anterograde and retrograde amnesia. The present case report seeks to highlight this patient’s chronology to Korsakoff Syndrome and our attempted interventions.

scholarly journals Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

2020 ◽  
Vol 21 (9) ◽  
pp. 3191
Author(s):  
Teresa Galera-Monge ◽  
Francisco Zurita-Díaz ◽  
Isaac Canals ◽  
Marita Grønning Hansen ◽  
Laura Rufián-Vázquez ◽  
...  
Keyword(s):  
Stem Cells ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Disorder ◽  
Induced Pluripotent Stem Cell ◽  
Leigh Syndrome ◽  
In Vitro Models ◽  
Mtdna Mutation ◽  
Electrophysiological Properties ◽  
Induced Pluripotent

Leigh syndrome (LS) is the most frequent infantile mitochondrial disorder (MD) and is characterized by neurodegeneration and astrogliosis in the basal ganglia or the brain stem. At present, there is no cure or treatment for this disease, partly due to scarcity of LS models. Current models generally fail to recapitulate important traits of the disease. Therefore, there is an urgent need to develop new human in vitro models. Establishment of induced pluripotent stem cells (iPSCs) followed by differentiation into neurons is a powerful tool to obtain an in vitro model for LS. Here, we describe the generation and characterization of iPSCs, neural stem cells (NSCs) and iPSC-derived neurons harboring the mtDNA mutation m.13513G>A in heteroplasmy. We have performed mitochondrial characterization, analysis of electrophysiological properties and calcium imaging of LS neurons. Here, we show a clearly compromised oxidative phosphorylation (OXPHOS) function in LS patient neurons. This is also the first report of electrophysiological studies performed on iPSC-derived neurons harboring an mtDNA mutation, which revealed that, in spite of having identical electrical properties, diseased neurons manifested mitochondrial dysfunction together with a diminished calcium buffering capacity. This could lead to an overload of cytoplasmic calcium concentration and the consequent cell death observed in patients. Importantly, our results highlight the importance of calcium homeostasis in LS pathology.

Gayet-Wernicke encephalopathy with rapid evolution toward dementia in alcoholic dependence – case report

Psihiatru ro ◽  
2019 ◽  
Vol 58 (3) (1) ◽  
pp. 18-20
Author(s):  
Cătălina Crişan ◽  
Laura Grosu ◽  
Oana Vanţa
Keyword(s):  
Case Report ◽  
Thiamine Deficiency ◽  
Withdrawal Syndrome ◽  
Rapid Evolution ◽  
Full Recovery ◽  
Wernicke Encephalopathy ◽  
Korsakoff Syndrome ◽  
Dementia Syndrome ◽  
Patients Experience

Gayet-Wernicke encephalopathy is an acute neuropsychiatric condition caused by thiamine deficiency. Only a small percentage of patients experience all three symptoms, with ophtalmoplegia, ataxia and confusion, and the full triad occurs more frequently among those who have overused alcohol. The evolution is toward full recovery, Korsakoff syndrome, dementia or death. We present the case of a 56-year-old patient, known with a diagnostic of alcoholism, who was admitted for a complicated withdrawal syndrome with delirium and who developed encephalopathy and dementia syndrome.

scholarly journals The psychotropic effect of vitamin D supplementation on schizophrenia symptoms

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Aras Neriman ◽  
Yilmaz Hakan ◽  
Ucuncu Ozge
Keyword(s):  
Vitamin D ◽  
Negative Symptoms ◽  
Metabolic Diseases ◽  
Wisconsin Card Sorting Test ◽  
Sunlight Exposure ◽  
Antipsychotic Treatment ◽  
Serum 25Ohd ◽  
Vitamin D Receptors ◽  
Vitamin D Levels ◽  
The Mean

Abstract Background Schizophrenia is a multifactorial disease involving interactions between genetic and environmental factors. Vitamin D has recently been linked to many metabolic diseases and schizophrenia. Vitamin D plays essential roles in the brain in the context of neuroplasticity, neurotransmitter biosynthesis, neuroprotection, and neurotransmission. Vitamin D receptors are demonstrated in most brain regions that are related to schizophrenia. However, very few studies in the literature examine the effects of 25-hydroxyvitamin D (25OHD) on schizophrenia symptoms. Methods This study aimed to examine the effects of vitamin D replacement on positive, negative, and cognitive symptoms of schizophrenia. Serum 25OHD levels of 52 schizophrenia patients were measured. SANS and SAPS were used to evaluate the severity of schizophrenia symptoms, and the Wisconsin Card Sorting Test: CV4 was used for cognitive assessment. The study was completed with 40 patients for various reasons. The patients whose serum 25OHD reached optimal levels after vitamin D replacement were reevaluated with the same scales in terms of symptom severity. The SPSS 25 package program was used for statistical analysis. The Independent-Samples t-test was used to examine the relationship between the variables that may affect vitamin D levels and the vitamin D level and to examine whether vitamin D levels had an initial effect on the scale scores. Results The mean plasma 25OHD levels of the patients was 17.87 ± 5.54. A statistically significant relationship was found only between the duration of sunlight exposure and 25 OHD level (p < 0.05). The mean SANS and SAPS scores of the participants after 25OHD replacement (23.60 ± 15.51 and 7.78 ± 8.84, respectively) were statistically significantly lower than mean SANS and SAPS scores before replacement (51.45 ± 17.96 and 18.58 ± 15.59, respectively) (p < 0.001 for all). Only the total attention score was significantly improved after replacement (p < 0.05). Conclusion The data obtained from our study suggest that eliminating the 25OHD deficiency together with antipsychotic treatment can improve the total attention span and positive and negative symptoms in schizophrenia. The 25OHD levels should be regularly measured, replacement should be started when necessary, and the patients should be encouraged to get sunlight exposure to keep optimal 25OHD levels.

scholarly journals Treatment-resistant schizophrenia characterised by dopamine supersensitivity psychosis and efficacy of asenapine

2021 ◽  
Vol 14 (4) ◽  
pp. e242495
Author(s):  
Nagara Takao ◽  
Toshiya Murai ◽  
Hironobu Fujiwara
Keyword(s):  
Animal Studies ◽  
Significant Proportion ◽  
Antipsychotic Treatment ◽  
High Dose ◽  
Receptor Density ◽  
Treatment Resistant ◽  
Psychomotor Activity ◽  
Receptor Blockers ◽  
Dopamine Supersensitivity

Dopamine supersensitivity psychosis (DSP) frequently arises with long-term antipsychotic treatment and accounts for a significant proportion of treatment-resistant schizophrenia. The mechanism underlying DSP is thought to be a compensatory increase in dopamine receptor density in the striatum caused by long-term antipsychotic treatment. Previous animal studies have reported that antipsychotics increase serotonin 5-HT2A receptor density in the striatum and that 5-HT2A receptor blockers suppress dopamine-sensitive psychomotor activity, which may be linked to the pathophysiology of DSP. In this paper, we describe a patient who was hospitalised with treatment-resistant schizophrenia. Following treatment with high-dose antipsychotic polypharmacy for 10 weeks, the patient experienced worsening of psychotic and extrapyramidal symptoms. The patient was then started on second-generation antipsychotic asenapine while other antipsychotics were tapered off, resulting in improvement of these symptoms. Retrospectively, we presumed that the high-dose antipsychotic polypharmacy caused DSP, which was effectively treated by the potent 5-HT2A receptor antagonism of asenapine.

scholarly journals Carepath for overcoming psychosis early (COPE): first 5 years of clinical operation and prospective research in the Cavan–Monaghan early intervention service

2021 ◽  
pp. 1-14
Author(s):  
S. Fayyaz ◽  
N. Nkire ◽  
B. Nwosu ◽  
N. Amjad ◽  
A. Kinsella ◽  
...  
Keyword(s):  
Early Intervention ◽  
Negative Symptoms ◽  
Education Programme ◽  
First Episode ◽  
Antipsychotic Treatment ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Research Findings ◽  
Prospective Research ◽  
Operational Activities

Objectives: As Ireland confronts the many challenges of broadening the introduction of early intervention services (EIS) for first episode psychosis (FEP) as national policy, this article describes Carepath for Overcoming Psychosis Early (COPE), the EIS of Cavan–Monaghan Mental Health Service, and presents prospective research findings during its first 5 years of operation. Methods: COPE was launched as a rural EIS with an embedded research protocol in early 2012, following an education programme for general practitioners (GPs). Here, operational activities are documented and research findings presented through to late 2016. Results: During this period, 115 instances of FEP were incepted into COPE, 70.4% via their GP and 29.6% via the Emergency Department. The annual rate of inception was 24.8/100,000 of population aged > 15 years and was 2.1-fold more common among men than women. Mean duration of untreated psychosis was 5.7 months and median time from first psychotic presentation to initiation of antipsychotic treatment was zero days. Assessments of psychopathology, neuropsychology, neurology, premorbid functioning, quality of life, insight, and functionality compared across 10 DSM-IV psychotic diagnoses made at six months following presentation indicated minimal differences between them, other than more prominent negative symptoms in schizophrenia and more prominent mania in bipolar disorder. Conclusions: COPE illustrates the actuality of introducing and the challenges of operating a rural EIS for FEP. Prospective follow-up studies of the 5-year COPE cohort should inform on the effectiveness of this EIS model in relation to long-term outcome in psychotic illness across what appear to be arbitrary diagnostic boundaries at FEP.

Thiamine (Vitamin B1)

2011 ◽  
Vol 16 (1) ◽  
pp. 12-20 ◽  
Author(s):  
Aviva Fattal-Valevski
Keyword(s):  
Cognitive Impairment ◽  
Cerebral Metabolism ◽  
Oxidant Stress ◽  
Vitamin B1 ◽  
Vitamin B ◽  
Deficient Diet ◽  
Common Cause ◽  
Korsakoff Syndrome ◽  
Reducing Substances ◽  
B Vitamin

Thiamine (vitamin B1) was the first B vitamin to have been identified. It serves as a cofactor for several enzymes involved in energy metabolism. The thiamine-dependent enzymes are important for the biosynthesis of neurotransmitters and for the production of reducing substances used in oxidant stress defenses, as well as for the synthesis of pentoses used as nucleic acid precursors. Thiamine plays a central role in cerebral metabolism. Its deficiency results in dry beriberi, a peripheral neuropathy, wet beriberi, a cardiomyopathy with edema and lactic acidosis, and Wernicke—Korsakoff syndrome, whose manifestations consist of nystagmus, ophthalmoplegia, and ataxia evolving into confusion, retrograde amnesia, cognitive impairment, and confabulation. Patients on a strict thiamine-deficient diet display a state of severe depletion within 18 days. The most common cause of thiamine deficiency in affluent countries is either alcoholism or malnutrition in nonalcoholic patients. Treatment by thiamine supplementation is beneficial for diagnostic and therapeutic purposes.

scholarly journals Neuroleptic malignant syndrome following catatonia: Vigilance is the price of antipsychotic prescription

2017 ◽  
Vol 5 ◽  
pp. 2050313X1769599 ◽  
Author(s):  
Thomas J Reilly ◽  
Sean Cross ◽  
David M Taylor ◽  
Richard Haslam ◽  
Sophie C Tomlin ◽  
...  
Keyword(s):  
Adverse Effect ◽  
Adverse Drug Reaction ◽  
Pulmonary Embolism ◽  
Neuroleptic Malignant Syndrome ◽  
Kidney Injury ◽  
Clinical Suspicion ◽  
Antipsychotic Treatment ◽  
High Dose ◽  
Intravenous Fluids ◽  
Life Threatening

Objectives: To describe a case of neuroleptic malignant syndrome following antipsychotic treatment of catatonia, highlighting the potentially serious complications of this rare adverse drug reaction. Methods: We present a case report of a patient who developed this syndrome with various sequelae. Results: The patient developed neuroleptic after being treated with lorazepam and olanzapine for catatonia. He subsequently developed the complications of rhabdomyolysis, acute kidney injury, pulmonary embolism, urinary retention and ileus. He received high-dose lorazepam, anticoagulation and intravenous fluids. Antipsychotic medication in the form of haloperidol was reinstated with no adverse effect, and he went on to make a full recovery. Conclusions: This case illustrates the potential life-threatening complications of neuroleptic malignant syndrome and the need for a low index of clinical suspicion. It also highlights the lack of evidence for treatment of catatonia, including the use of antipsychotics.

Metabolic Encephalopathy - Part II

2019 ◽  
Author(s):  
Rick Gill ◽  
Matthew McCoyd ◽  
Sean Ruland ◽  
José Biller
Keyword(s):  
Nutritional Intake ◽  
Osmotic Demyelination Syndrome ◽  
Wernicke Encephalopathy ◽  
Metabolic Encephalopathy ◽  
Improve Outcome ◽  
Myxedema Coma ◽  
Hashimoto Encephalopathy ◽  
Korsakoff Syndrome ◽  
Dialysis Disequilibrium Syndrome ◽  
Neurologic Function

Normal neurologic function requires a constantly balanced environment of electrolytes.  Normal hepatic and renal function is critical in maintaining this balance while removing toxins, maintaining a physiologic pH and regulating the excretion of electrolytes.  Nutritional intake provides essential nutrients but deficiencies can lead to characteristic syndromes such as Wernicke's encephalopathy and pellagra and exposure to neurotoxic substances such as heavy metals can lead to encephalopathy.  Thyroid and adrenal dysfunction are common endocrine causes of encephalopathy and symptoms can often improve rapidly with treatment.  A subset of idiopathic encephalopathy is increasingly being recognized as having an autoimmune basis, often presenting as a paraneoplastic process, and having a constellation of symptoms which can aide in the diagnosis.  Timely recognition and treatment of the autoantibodies which target neural structures, with immunosuppressive therapy, can improve outcome in these patients.   This review contains 4 figures, 3 tables, and 42 references. Key words: osmotic demyelination syndrome,hepatic encephalopathy, renal failure, triphasic waves, dialysis disequilibrium syndrome, Wernicke encephalopathy, Korsakoff syndrome, myxedema coma, Hashimoto encephalopathy

Metabolic Encephalopathy - Part II

2019 ◽  
Author(s):  
Rick Gill ◽  
Matthew McCoyd ◽  
Sean Ruland ◽  
José Biller
Keyword(s):  
Nutritional Intake ◽  
Osmotic Demyelination Syndrome ◽  
Wernicke Encephalopathy ◽  
Metabolic Encephalopathy ◽  
Improve Outcome ◽  
Myxedema Coma ◽  
Hashimoto Encephalopathy ◽  
Korsakoff Syndrome ◽  
Dialysis Disequilibrium Syndrome ◽  
Neurologic Function

Normal neurologic function requires a constantly balanced environment of electrolytes.  Normal hepatic and renal function is critical in maintaining this balance while removing toxins, maintaining a physiologic pH and regulating the excretion of electrolytes.  Nutritional intake provides essential nutrients but deficiencies can lead to characteristic syndromes such as Wernicke's encephalopathy and pellagra and exposure to neurotoxic substances such as heavy metals can lead to encephalopathy.  Thyroid and adrenal dysfunction are common endocrine causes of encephalopathy and symptoms can often improve rapidly with treatment.  A subset of idiopathic encephalopathy is increasingly being recognized as having an autoimmune basis, often presenting as a paraneoplastic process, and having a constellation of symptoms which can aide in the diagnosis.  Timely recognition and treatment of the autoantibodies which target neural structures, with immunosuppressive therapy, can improve outcome in these patients.   This review contains 4 figures, 3 tables, and 42 references. Key words: osmotic demyelination syndrome,hepatic encephalopathy, renal failure, triphasic waves, dialysis disequilibrium syndrome, Wernicke encephalopathy, Korsakoff syndrome, myxedema coma, Hashimoto encephalopathy

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