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Marchiafava Bignami Disease (MBD) is a reversible neurological disorder with can be difficult to diagnose initially due to variable neurological presentations that can be seen in patients. Physicians need to consider this diagnosis as the readily available treatment of thiamine can help reverse symptoms and prevent long lasting effects. We present the case of a 52-year-old man with a history of alcohol use disorder who presented with concerns for a cerebrovascular accident. The patient had neurological signs that were vague and included intermittent confusion, subtle droop to the lower lip, and ataxia in their limbs. MRI revealed restricted diffusion in the corpus callosum which helped confirm the diagnosis of MBD. Treatment with thiamine helped the patient get back to their usual state of health with no new neurological deficits. This case emphasizes that MBD is a rare neurological disorder that must be considered in patients with alcohol use disorder who present with varying neurological symptoms as early thiamine treatment can reverse symptoms., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Aims: Hypoglycemic encephalopathy (HE) can cause long-lasting mental changes, disability, and even death. We aimed to investigate prognostic factors for HE and to determine when the treatment of HE becomes futile. Methods: We retrospectively evaluated the data of patients admitted for prolonged HE at Dongguk University Ilsan Hospital between December 2005 and July 2021. We assessed the Glasgow Outcome Scale (GOS) to assess functional outcome. Results: Forty-four patients were enrolled in the study. Thirty-two of these showed the improvement on GOS after treatment. Patients with improved consciousness had a shorter duration of hypoglycemia (1.6±1.4 vs. 7.8±15.0 hours, p = 0.04) and a lower incidence of brain lesions than those without improvements in consciousness (76.0% vs. 25.0%, p < 0.01). Patients whose lesions were detected in initial MRIs were 1.3 times less likely to recover consciousness after HE (odds ratios, 1.28; 95% CI, 1.09-1.52; p < 0.01). None of the patients recovered consciousness after 320 h. Maximum time spent to recover was 194 in patients without brain lesions and 319 in those with lesions. Conclusions: Hypoglycemic brain injury detected in initial MRIs predicted poorer HE prognosis. Nevertheless, treatment should be provided for at least for 14 days after admission. [ABSTRACT FROM AUTHOR]

Chronic low-grade inflammation has been observed in major depression and other major psychiatric disorders and has been implicated in metabolic changes that are commonly associated with these disorders. This raises the possibility that the effects of dysfunctional metabolism may facilitate changes in neuronal structure and function which contribute to neuroprogression. Such changes may have implications for the progress from major depression to dementia in the elderly patient. The purpose of this review is to examine the contribution of inflammation and hypercortisolaemia, which are frequently associated with major depression, to neurodegeneration and how they detrimentally impact on brain energy metabolism. A key factor in these adverse events is insulin insensitivity caused by pro-inflammatory cytokines in association with desensitised glucocorticoid receptors. Identifying the possible metabolic changes initiated by inflammation opens new targets to ameliorate the adverse metabolic changes. This has resulted in the identification of dietary and drug targets which are of interest in the development of a new generation of psychotropic drugs. [ABSTRACT FROM AUTHOR]

Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine. It can be diagnosed through high risk screening in symptomatic cases. Aim: To know the clinical, biochemical, neuroimaging and outcome profile of Glutaric aciduria type 1 patient diagnosed during testing by Tandem Mass Spectrometry (TMS) and Gas Chromatography and Mass Spectrometry (GCMS). Materials and Methods: It was retrospective record analysis of patients diagnosed with Glutaric aciduria type 1. 2000 patients were screened for various indications like (developmental delay/ regression, unexplained seizures, encephalopathy, dystonia, chorea, large head, unexplained sibling death). Screening strategy involved estimation of lactate, ammonia, TMS and GCMS. Neuroimaging was done where it was required. This study was conducted over a period of three years (January 2014 to December 2016). Results: Study group comprised of 10 males and 3 females. Median age (interquartile range) of presentation in study group was 11 months (10-22.5). Pretesting diagnosis was suspected as inborn error of metabolism in each case based on clinical presentation. Seizure and dystonia were important clinical presentation. Frontotemporal atrophy was important neuroimaging finding. Macrocephaly was present in two of thirteen cases. Glutarylcarnitine level was normal in 5 of 11 patients, suggesting poor sensitivity of TMS in diagnosed cases. There was wide variation in excretion of urinary metabolite from cases to cases, highlighting genetic heterogenousity. Conclusion: Seizures and dystonia were important clinical presentations. Presence of bilateral frontotemporal atrophy in clinical testing was an important clue to diagnosis. Presence of macrocephaly (important sign of disease) was present in only two cases. There was only one death in follow up.

Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine. It can be diagnosed through high risk screening in symptomatic cases. Aim: To know the clinical, biochemical, neuroimaging and outcome profile of Glutaric aciduria type 1 patient diagnosed during testing by Tandem Mass Spectrometry (TMS) and Gas Chromatography and Mass Spectrometry (GCMS). Materials and Methods: It was retrospective record analysis of patients diagnosed with Glutaric aciduria type 1. 2000 patients were screened for various indications like (developmental delay/ regression, unexplained seizures, encephalopathy, dystonia, chorea, large head, unexplained sibling death). Screening strategy involved estimation of lactate, ammonia, TMS and GCMS. Neuroimaging was done where it was required. This study was conducted over a period of three years (Jan 2014 to Dec 2016). Results: Study group comprised of 10 males and 3 females. Median age (interquartile range) of presentation in study group was 11 months (10-22.5). Pretesting diagnosis was suspected as inborn error of metabolism in each case based on clinical presentation. Seizure and dystonia were important clinical presentation. Frontotemporal atrophy was important neuroimaging finding. Macrocephaly was present in two of thirteen cases. Glutarylcarnitine level was normal in 5 of 11 patients, suggesting poor sensitivity of TMS in diagnosed cases. There was wide variation in excretion of urinary metabolite from cases to cases, highlighting genetic heterogenousity. Conclusion: Seizures and dystonia were important clinical presentations. Presence of bilateral frontotemporal atrophy in clinical testing was an important clue to diagnosis. Presence of macrocephaly (important sign of disease) was present in only two cases. There was only one death in follow up. [ABSTRACT FROM AUTHOR]

Copyright of Zeitschrift für Epileptologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Zeitschrift für Epileptologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Many brain diseases, including Alzheimer's disease, are associated with genetic abnormalities. The search for more effective therapeutic approaches involving nucleic acids like interfering RNA, antisense oligonucleotides and mRNA has drawn much attention in the development of alternatives to virus-based gene therapy. Potentially, nucleic acids could not only specifically down-regulate and degrade misfolded proteins, but also relieve protein deficiencies by directing the translation of functional proteins. However, clinical applications have been stalled by the lack of proper delivery systems. Exosomes are nano-scale extracellular vesicles secreted by nearly all somatic cells. Recent work has revealed that exosomes play special roles in intercellular communication via the horizontal transfer of various RNAs among cells. Recently, the use of exosomes for the delivery of therapeutic nucleic acids to targeted cells has been demonstrated to be a practical approach. Here, we briefly review the general properties of exosomes and introduce three therapeutic nucleic acids. Based upon comparison with other delivery methods, exosomes are proposed as an ideal nucleic acid delivery system for metabolic brain disease therapy. [ABSTRACT FROM AUTHOR]

With the increase in the number of identified rare diseases and the intricacy involved in diagnosis, as exemplified by metabolic brain diseases, the need for computerized diagnostic systems is inevitable. We propose a pilot computer-assisted medical decision support system (m CAD) which tries to identify and further categorize these diseases, utilizing the information available from magnetic resonance spectroscopy ( MRS) and diffusion-weighted imaging ( DWI). In this study, we have utilized wavelets, fuzzy relational classifiers and a collection of signal/image processing routines to extract and to classify disease features. The combined MRS+ DWI system achieved a sensitivity ( Se) and positive predictivity ( PP) of 65.00% and 72.22%, respectively, in detecting seven categories of metabolic brain diseases. The combined MRS+ DWI system exhibits a 10% and 3.47% increase in Se and PP, respectively, in comparison to the system using only DWI information. It also increases the Se and PP of the system using only the MRS information by 15% and 22.22%, respectively. [ABSTRACT FROM AUTHOR]

Aims: Hypoglycemic encephalopathy (HE) can cause long-lasting mental changes, disability, and even death. We aimed to investigate prognostic factors for HE and to determine when the treatment of HE becomes futile., Methods: We retrospectively evaluated the data of patients admitted for prolonged HE at Dongguk University Ilsan Hospital between December 2005 and July 2021. We assessed the Glasgow Outcome Scale (GOS) to assess functional outcome., Results: Forty-four patients were enrolled in the study. Thirty-two of these showed the improvement on GOS after treatment. Patients with improved consciousness had a shorter duration of hypoglycemia (1.6±1.4 vs. 7.8±15.0 hours, p = 0.04) and a lower incidence of brain lesions than those without improvements in consciousness (76.0% vs. 25.0%, p < 0.01). Patients whose lesions were detected in initial MRIs were 1.3 times less likely to recover consciousness after HE (odds ratios, 1.28; 95% CI, 1.09-1.52; p < 0.01). None of the patients recovered consciousness after 320 h. Maximum time spent to recover was 194 in patients without brain lesions and 319 in those with lesions., Conclusions: Hypoglycemic brain injury detected in initial MRIs predicted poorer HE prognosis. Nevertheless, treatment should be provided for at least for 14 days after admission., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lee, Lee, Lee and Park.)

Abstract: The diffusion-weighted imaging (DWI) technique can be utilized to investigate a variety of diseases. We propose an automated pilot system, which assists in the diagnosis of metabolic brain diseases, utilizing the DWI. In this study, DWI images are preprocessed and exponential apparent diffusion coefficient (eADC) images are produced. The eADC images are later brain extracted and normalized to a standard brain template. Subsequently, we utilized wavelets to denoise the eADC images. The images are rectified, thresholded and now conspicuous abnormal regions are subsequently identified utilizing different brain atlases. Abnormal regions constitute the features that will be used by a fuzzy relational classifier in order to categorize the diseases. A sensitivity and specificity of 60% and 93.33%, respectively, in detecting metabolic brain diseases have been achieved. [Copyright &y& Elsevier]

Sanaker PS, Nakkestad HL, Downham E, Bindoff LA. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurol Scand: 2010: 121: 109–113. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Background – Mitochondrial DNA (mtDNA) mutations are increasingly being recognized as causes of late-onset disease. We report a patient with a late-onset mitochondrial encephalomyopathy caused by a novel G > C transition in mtDNA at position 5556 in the gene encoding the tRNA for tryptophan ( MTTW). Aims – To investigate the cause of disease and assess the pathogenicity of this new mutation. Methods – Clinical, histopathological and gene sequencing studies. Quantification of the mutation was performed in different tissues from the patient and two relatives and in single muscle fibres. Results – The mutation was heteroplasmic, segregated in biochemically affected muscle fibres and was absent in blood. The level of mutation in skeletal muscle was higher than in brain, although the brain was clinically the most affected tissue. Discussion – The 5556G > C mutation appears sporadic. It was not found in any of the family members tested, although some of them manifested disorders that can be associated with mtDNA disease. In addition to reporting the eighth mutation in MTTW, our case illustrates the challenges posed when assigning pathogenicity to mtDNA mutations. [ABSTRACT FROM AUTHOR]

Abstract: A suspected metabolic disorder presents a difficult challenge to the physician and the patient. We have developed a fully automated system in order to analyze and classify the magnetic resonance spectroscopy signals of patients with metabolic brain diseases. We utilized wavelets to extract signal features and in the time-frequency representations to optimize the feature extraction procedure. Novel fuzzy membership functions and a fuzzy relational classifier were designed to categorize the metabolic brain diseases in children using the information obtained from the feature extraction routine. The sensitivity (Se) and the positive predictivity (PP) of 88.26% and 91.04% in extracting features and 89.66% and 100%, respectively, in detecting metabolic brain diseases has been achieved. [Copyright &y& Elsevier]

Dietary deprivation of thiamine combined with pyrithiamine administration in rats was used for pathophysiological and morphological investigations. The animals passed through three different symptomatic stages, ranging from slight neurological abnormalities to generalized seizures from day 8 up to day 11. Hypothermia was a consistent finding during the second week. Histological examination revealed two types of neuropathological lesions in the rats. Those in the colliculi inferiores and the vestibular nuclei were characterized by a bullous spongiform appearance of the neuropil with severely damaged, pale and oedematous nerve cells. Alterations in the thalamus and inferior olives, however, showed eosinophilic nerve cell necrosis of the ischaemic type which resembles the thalamic pathology found in human cases of Wernicke's encepalopathy. [ABSTRACT FROM AUTHOR]