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https://www.readbyqxmd.com/read/29332084/thalamic-deep-brain-stimulation
#1
Benjamin B Whiting, Alexander C Whiting, Donald M Whiting
The use of deep brain stimulation (DBS) of the thalamus has been proven to be a safe and efficacious treatment for the management of many diseases. The most common indication for thalamic DBS remains essential tremor (ET), one of the most common movement disorders in the world. ET patients should be considered for surgical intervention when their tremor has demonstrated to be refractory to medication, a characteristic estimated to be present in roughly 50% of ET cases. Advantages of DBS over thalamotomy include its reversibility, the ability to adjust stimulation settings to optimize efficacy and minimize side effects, the ability to perform bilateral procedures safely, and an association with a lower risk of postoperative cognitive problems...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331873/epilepsy-and-ovarian-failure-two-cases-of-adolescent-onset-ovarioleukodystrophy
#2
José David Herrera-García, Virginia Guillen-Martínez, Carlota Creus-Fernández, Adolfo Mínguez-Castellanos, Cristóbal Carnero Pardo
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres...
January 5, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29331847/longitudinal-hippocampal-and-extra-hippocampal-microstructural-and-macrostructural-changes-following-temporal-lobe-epilepsy-surgery
#3
Cameron A Elliott, Donald W Gross, B Matt Wheatley, Christian Beaulieu, Tejas Sankar
OBJECTIVES: 1) Characterize the evolution of microstructural changes in the contralateral, non-operated hippocampus-using longitudinal diffusion tensor imaging (DTI)-following surgery for temporal lobe epilepsy (TLE). 2) Characterize the downstream extra-hippocampal volumetric changes of the fornix and mammillary bodies after TLE surgery. 3) Examine the relationship between these measures and seizure/cognitive outcome. METHODS: Serial structural and DTI brain MRI scans were collected in 25 TLE patients pre- and post-surgery (anterior temporal lobectomy, ATL - 13; selective amygdalohippocampectomy, SelAH - 12) and in 12 healthy controls...
January 6, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29331287/characterizing-the-effects-of-deep-brain-stimulation-with-magnetoencephalography-a-review
#4
REVIEW
Irene E Harmsen, Nathan C Rowland, Richard A Wennberg, Andres M Lozano
BACKGROUND: Deep brain stimulation (DBS) is an important form of neuromodulation that is being applied to patients with motor, mood, or cognitive circuit disorders. Despite the efficacy and widespread use of DBS, the precise mechanisms by which it works remain unknown. Over the last decade, magnetoencephalography (MEG) has become an important functional neuroimaging technique used to study DBS. OBJECTIVE: This review summarizes the literature related to the use of MEG to characterize the effects of DBS...
January 4, 2018: Brain Stimulation
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#5
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29329108/cracking-novel-shared-targets-between-epilepsy-and-alzheimer-s-disease-need-of-the-hour
#6
Nitika Garg, Rupa Joshi, Bikash Medhi
Epilepsy and Alzheimer's disease (AD) are interconnected. It is well known that seizures are linked with cognitive impairment, and there are various shared etiologies between epilepsy and AD. The connection between hyperexcitability of neurons and cognitive dysfunction in the progression of AD or epileptogenesis plays a vital role for improving selection of treatment for both diseases. Traditionally, seizures occur less frequently and in later stages of age in patients with AD which in turn implies that neurodegeneration causes seizures...
January 12, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29325619/clinical-approach-to-the-patient-with-neurogenetic-disease
#7
Thomas D Bird, Corrie O Smith
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29322489/measurement-in-pediatric-epilepsy-self-management-a-critical-review
#8
REVIEW
Gigi Smith, Avani C Modi, Erica K Johnson, Ross Shegog, Joan K Austin, Janelle L Wagner
Given the paucity of information available regarding self-management, the aims of this paper are to synthesize the literature on factors associated with and measures to assess self-management in pediatric epilepsy. INCLUSION CRITERIA: youth birth to 18 years with a seizure disorder or an epilepsy diagnosis and/or their caregivers, published 1985-2014 in English, and conducted in countries with a very high human development index. The review was conducted in 6 phases: (1) identification of bibliographical search criteria and databases; (2) abstract assessment; (3) full article review; (4) organization of final citations into categories; (5) identification of predictors, potential mediators/moderators, and outcomes associated with self-management factors and categorization of factors as influences, processes, or behaviors across individual, family, community, and health care domains; and (6) critique of self-management instrument studies...
January 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29321515/nationwide-survey-on-cerebrotendinous-xanthomatosis-in-japan
#9
Yoshiki Sekijima, Shingo Koyama, Tsuneaki Yoshinaga, Masayoshi Koinuma, Yuji Inaba
Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. A total of 1032 (40.6%) responses were returned completed for further analysis...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#10
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29321231/chronic-traumatic-encephalopathy-in-an-epilepsy-surgery-cohort-clinical-and-pathologic-findings
#11
Amy L Jones, Jeffrey W Britton, Melissa M Blessing, Joseph E Parisi, Gregory D Cascino
OBJECTIVE: To determine the occurrence of chronic traumatic encephalopathy (CTE) in young adult patients undergoing epilepsy surgery. METHODS: Ten patients who underwent epilepsy surgery were randomly selected for this retrospective study. The patients were 18-45 years of age, had preoperative neuropsychological evaluation, and had 1 year postoperative follow-up. Microscopic sections from resections were evaluated for the presence of CTE with standard stains and antibodies to tau (clone AT8)...
January 10, 2018: Neurology
https://www.readbyqxmd.com/read/29318973/relevance-of-follow-up-in-patients-with-core-clinical-criteria-for-alzheimer-disease-and-normal-csf-biomarkers
#12
Olivier Vercruysse, Claire Paquet, Audrey Gabelle, Xavier Delbeuck, Frederic Blanc, David Wallon, Julien Dumurgier, Eloi Magnin, Olivier Martinaud, Barbara Jung, Olivier Bousiges, Sylvain Lehmann, Constance Delaby, Muriel Quillard-Murain, Katell Peoc'h, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Didier Hannequin, Bernard Sablonniere, Luc Buee, Jacques Hugon, Susanna Schraen, Florence Pasquier, Stephanie Bombois
BACKGROUND: Few patients with a normal cerebrospinal fluid (CSF) biomarker profile fulfill the clinical criteria for Alzheimer disease (AD). OBJECTIVE: The aim of this study was to test the hypothesis of misdiagnoses for these patients. METHOD: Patients from the e-PLM centers fulfilling the core clinical criteria for probable AD dementia or mild cognitive impairment due to AD (AD-MCI), with normal CSF A1-42, T-tau and P-tau biomarkers and clinical follow-up, were included...
January 9, 2018: Current Alzheimer Research
https://www.readbyqxmd.com/read/29315614/defining-the-phenotypic-spectrum-of-slc6a1-mutations
#13
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J Lawrence Merritt, Lance H Rodan, Wen-Hann Tan, Lynne M Bird, Mark Nespeca, Joseph G Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Helenius J Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E Shaw, Laura Pisani, Candace T Myers, Sha Tang, Shan Tang, Deb K Pal, John J Millichap, Gemma L Carvill, Kathrine L Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S Møller
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29310907/co-occurrence-and-severity-of-neurodevelopmental-burden-cognitive-impairment-cerebral-palsy-autism-spectrum-disorder-and-epilepsy-at-age-10-years-in-children-born-extremely-preterm
#14
Rachel G Hirschberger, Karl C K Kuban, Thomas M O'Shea, Robert M Joseph, Tim Heeren, Laurie Douglass, Carl E Stafstrom, Hernan Jara, Jean A Frazier, Deborah Hirtz, Julie Rollins, Nigel Paneth
BACKGROUND: This study aims to determine the prevalence of neurodevelopmental impairments at age ten years among children born extremely preterm (less than 28 weeks gestational age) and to offer a framework for categorizing neurological limitations. METHODS: A multicenter, prospective cohort follow-up study recruited 889 ten-year-old children born from 2002 to 2004. We assessed prevalence of cognitive impairment, measured by intelligent quotient and tests of executive function, cerebral palsy (CP), autism spectrum disorder (ASD), and epilepsy singly and in combination...
November 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29306906/-psychiatric-disorders-in-epilepsy-clinical-phenomena
#15
Anna Szucs, Andras Horvath, Daniel Fabo, Geza Szabo, Andrea Kovacs, Peter Halasz
The frequent psychiatric comorbidity in epilepsy compromises the quality of life of those affected, further increasing their suicide risk and the high burden of stigmatisation. Out of adulthood epilepsies, mesio-temporal lobe epilepsy carries the highest cognitive and psychiatric risk, making mental health comorbidities its inherent features. The pathomechanism of the epilepsy-related mental health symptoms and conditions appears to be related to undetected subclinical seizures, postictal exhaustion and inhibition, and the non-REM sleep related interictal epileptic activity...
September 2017: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/29306849/verbal-learning-and-memory-outcome-in-selective-amygdalohippocampectomy-versus-temporal-lobe-resection-in-patients-with-hippocampal-sclerosis
#16
Mette Thrane Foged, Kirsten Vinter, Louise Stauning, Troels W Kjær, Brice Ozenne, Sándor Beniczky, Olaf B Paulson, Flemming Find Madsen, Lars H Pinborg
PURPOSE: With the advent of new very selective techniques like thermal laser ablation to treat drug-resistant focal epilepsy, the controversy of resection size in relation to seizure outcome versus cognitive deficits has gained new relevance. The purpose of this study was to test the influence of the selective amygdalohippocampectomy (SAH) versus nonselective temporal lobe resection (TLR) on seizure outcome and cognition in patients with mesial temporal lobe epilepsy (MTLE) and histopathological verified hippocampal sclerosis (HS)...
January 4, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29301151/erratum-cognition-and-behavior-in-childhood-epilepsy
#17
Bernd A Neubauer
No abstract text is available yet for this article.
January 4, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29299381/the-m-7510t-c-mutation-hearing-impairment-and-a-complex-neurologic-phenotype
#18
Laura Kytövuori, Maria Gardberg, Kari Majamaa, Mika H Martikainen
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds. Materials and Methods: We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29288503/neurodegenerative-processes-in-temporal-lobe-epilepsy-with-hippocampal-sclerosis-clinical-pathological-and-neuroimaging-evidence
#19
X Y Tai, B Bernhardt, M Thom, P Thompson, S Baxendale, M Koepp, N Bernasconi
Cognitive decline is increasingly described as a co-morbidity of temporal lobe epilepsy (TLE). Mechanisms underlying cognitive impairment are not fully understood despite examining clinical factors, such as seizure frequency, and cellular mechanisms of excitotoxicity. We review the neuropsychometry evidence for progressive cognitive decline and examine the pathology and neuroimaging evidence supporting a neurodegenerative process in hippocampal sclerosis (HS)-related TLE. Accelerated cognitive decline is described in groups of adult HS-related TLE patients...
December 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29287217/association-of-white-matter-diffusion-characteristics-and-cognitive-deficits-in-temporal-lobe-epilepsy
#20
Raúl Rodríguez-Cruces, Leticia Velázquez-Pérez, Ildefonso Rodríguez-Leyva, Ana Luisa Velasco, David Trejo-Martínez, Héctor Manuel Barragán-Campos, Vicente Camacho-Téllez, Luis Concha
OBJECTIVE: The purpose of this study was to evaluate the relation between cognitive performance and white matter (WM) integrity in patients with temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS). METHODS: We included 26 patients with TLE (10 right, 16 left onset) as well as 24 healthy controls matched for age, gender, and years of education. In addition to quantitative hippocampal volume and transverse relaxation (T2) evaluation, whole-brain WM was analyzed using fractional anisotropy (FA) maps, derived from the diffusion tensor model...
December 26, 2017: Epilepsy & Behavior: E&B
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