Pathologic confirmation of Lafora disease

We read with great interest the article “Progressive, Fatal Neurological Decline in an Adolescent” by Jacobs et al [1] published in Pediatric Neurology in 2017. Lafora disease is a rare autosomal recessive progressive myoclonus epilepsy with onset classically on the second decade of life [2]. It occurs worldwide, but is more frequent in Mediterranean countries [3]. It presents with generalized seizures followed by myoclonus [4]. Cognitive decline develops rapidly and progresses to dementia [4].
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Correspondence Source Type: research

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(University of Copenhagen The Faculty of Health and Medical Sciences) Stem cell researchers from the University of Copenhagen have designed a model of an early embryonic brain. The model will increase our understanding of how the human brain develops and can thereby help to accelerate the development of stem cell treatments for brain disorders such as Parkinson's disease, epilepsy and dementia.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Authors: Livint Popa L, Dragos H, Pantelemon C, Verisezan Rosu O, Strilciuc S Abstract Quantitative electroencephalography (QEEG) is a modern type of electroencephalography (EEG) analysis that involves recording digital EEG signals which are processed, transformed, and analyzed using complex mathematical algorithms. QEEG has brought new techniques of EEG signals feature extraction: analysis of specific frequency band and signal complexity, analysis of connectivity, and network analysis. The clinical application of QEEG is extensive, including neuropsychiatric disorders, epilepsy, stroke, dementia, traumatic brain i...
Source: Journal of Medicine and Life - Category: General Medicine Tags: J Med Life Source Type: research
AbstractEPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various types of seizure with myoclonic seizure as the main type. Typically within 10  years, intractable seizure attack, rapidly progressing dementia, and a vegetative state were present. LD is particularly frequently found in Mediterranean countries. Here, we report a Chinese family with a novel compound heterozygous mutation in theEPM2A gene, characterized by recurrent vomiting, intract...
Source: Neurological Sciences - Category: Neurology Source Type: research
Abstract Brain PET, which has led research in molecular imaging and diagnosis of brain cancer, epilepsy and neurodegenerative disorders, is being spotlighted again to promote earlier diagnosis of dementia with the advent of amyloid and tau tracers. To meet this demand, in this paper, we developed a brain-dedicated PET imaging device with a hemispherical detector arrangement, which provides comparable sensitivity with fewer detectors than conventional cylindrical geometries. The introduction of the time-of-flight (TOF) measurement capability was a key point for the development to get a gain in the image signal-to-n...
Source: Physics in Medicine and Biology - Category: Physics Authors: Tags: Phys Med Biol Source Type: research
We report the case of a 32 years old man with a family history of  early onset AD associated with a PSEN1 mutation in the exon 4 (I83T). The proband's, carrying the mutation,  present a refractory epilepsy predating cognitive decline. We discuss the physiopathological mechanisms of epilepsy during AD associated with PSEN 1 mutation, the possibility of linking this epilepsy to the mutation?. PMID: 32241222 [PubMed - as supplied by publisher]
Source: Neurocase - Category: Neurology Authors: Tags: Neurocase Source Type: research
We described cohort characteristics and developed regression models to determine which characteristics were most strongly associated with PIES subscale (seizure, medication, comorbidity) scores and quality of life (QOL). RESULTS: Approximately 36% of those who were invited responded to the survey. Of the 438 respondents included in the analyses, roughly 50% were aged 45-64 years (35%>65; 14% 18-44); 19% were women. Almost 90% had previously received care by an epilepsy specialist, 37% of which was in Veterans Health Administration (VHA) and 38% in both VHA and community. The PIES scores were moderately low (mean:...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Conclusions: The most striking feature of this study was the high prevalence of incorrect diagnosis of schizophrenia, with patients not receiving the minimum correct assessment before that diagnosis, resulting in negative consequences. Caution is recommended when diagnosing severely psychotic patients independent of their acute or chronic condition. PMID: 32220147 [PubMed - as supplied by publisher]
Source: The Primary Care Companion for CNS Disorders - Category: Primary Care Tags: Prim Care Companion CNS Disord Source Type: research
In the face of COVID-19, neurologists working in stroke, epilepsy, dementia, and other subspecialties are tasked with a quick pivot from in-office patient visits to a new era of online consultations.Medscape Medical News
Source: Medscape Internal Medicine Headlines - Category: Internal Medicine Tags: Neurology & Neurosurgery News Source Type: news
Authors: Lotan E, Friedman KP, Davidson T, Shepherd TM Abstract BACKGROUND: The authors reviewed the two most common current uses of brain 18F-labeled fluoro-2-deoxyglucose positron emission tomography (FDG-PET) at a large academic medical center. For epilepsy patients considering surgical management, FDG-PET can help localize epileptogenic lesions, discriminate between multiple or discordant EEG or MRI findings, and predict prognosis for post-surgical seizure control. In elderly patients with cognitive impairment, FDG-PET often demonstrates lobar-specific patterns of hypometabolism that suggest particular underlyi...
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
Purpose of review To illustrate the frequency and trends of the comorbidity of epilepsy and dementia and the effects of antiepileptic drugs (AEDs) on cognitive functions. Recent findings Although the mortality and incidence of epilepsy are decreasing overall, they are increasing in the elderly as a result of population growth and increased life expectancy. Alzheimer's disease and other dementias are among the commonest causes of seizures and epilepsy. Epilepsy can be also complicated by cognitive impairment, suggesting a bidirectional association. Although epilepsy with onset in the elderly can be the manifestation of...
Source: Current Opinion in Neurology - Category: Neurology Tags: SEIZURE DISORDERS: Edited by Matthew C. Walker Source Type: research
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