49,105 results match your criteria Neurology[Journal]


Evidence for treatment of spasticity in motor neuron disease.

Lancet Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Amsterdam University Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30493-9DOI Listing
December 2018

Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Lancet Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

Background: Spasticity is a major determinant of disability and decline in quality of life in patients with motor neuron disease. Cannabinoids have been approved for symptomatic treatment of spasticity in multiple sclerosis. We investigated whether cannabinoids might also reduce spasticity in patients with motor neuron disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14744422183040
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http://dx.doi.org/10.1016/S1474-4422(18)30406-XDOI Listing
December 2018
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LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.

BMC Neurol 2018 Dec 15;18(1):207. Epub 2018 Dec 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.

Background: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-018-1207-0DOI Listing
December 2018
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Morphologic characteristics of severe basilar artery atherosclerotic stenosis on 3D high-resolution MRI.

BMC Neurol 2018 Dec 15;18(1):206. Epub 2018 Dec 15.

Department of Radiology, China-Japan Friendship Hospital, 2 Yinghuayuan Dongjie, Beijing, China.

Background: Two-dimensional high-resolution MRI (2D HRMRI) faces many technical challenges for fully assessing morphologic characteristics of inherent tortuous basilar arteries. Our aim was to investigate remodeling mechanisms and plaque distribution in symptomatic patients with basilar artery stenosis on three-dimensional (3D) HRMRI.

Methods: Forty-six consecutive patients with symptomatic basilar artery atherosclerotic stenosis on MRA (70-99%) were enrolled. Read More

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http://dx.doi.org/10.1186/s12883-018-1214-1DOI Listing
December 2018

Prolonged allocentric navigation deficits indicate hippocampal damage in TGA.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Department of Neurology (F.S., C.T., M.D., A.Z.), German Center for Vertigo and Balance Disorders (F.S., S.I., C.P., S.B., C.T., E.S., G.K., P.B., M.D., T.B., A.Z.), Graduate School of Systemic Neuroscience (S.I., M.D., T.B.), Department of Nuclear Medicine (P.B.), and Clinical Neurosciences (T.B.), Ludwig Maximilians University, Munich; and Munich Cluster of Systems Neurology (P.B., M.D.), SyNergy, Munich, Germany.

Objective: To investigate long-term recovery of allocentric and egocentric spatial orientation as a sensitive marker for hippocampal and extrahippocampal network function in transient global amnesia (TGA).

Methods: A group of 18 patients with TGA performed an established real-space navigation paradigm, requiring allo- and egocentric spatial orientation abilities, 3 days (postacute stage) and 3 months (follow-up) after symptom onset. Visual exploration behavior and navigation strategy were documented by a gaze-controlled, head-fixed camera. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006779DOI Listing
December 2018
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Multiple biomarkers covering distinct pathways for predicting outcomes after ischemic stroke.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Department of Epidemiology (C.Z., Z.Z., A.W., Tan Xu, X.B., H.P., J.Y., L.H., Tian Xu, Y.Z.), School of Public Health and Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Medical College of Soochow University, Suzhou, China; Department of Epidemiology (C.Z., J.C., J.H.), Tulane University School of Public Health and Tropical Medicine, New Orleans, LA; Department of Epidemiology (J.Y.), School of Public Health, Guizhou Medical University, Guiyang; Department of Preventive Medicine (L.H.), Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, China; Department of Medicine (J.C., J.H.), Tulane University School of Medicine, New Orleans, LA; Department of Neurology (Tian Xu), Affiliated Hospital of Nantong University, Nantong; Department of Neurology (Y.P.), Affiliated Hospital of North China University of Science and Technology; Department of Neurology (J.W.), Yutian County Hospital, Tangshan; Department of Epidemiology (Q.L.), School of Public Health, Taishan Medical College, Taian; Department of Neurology (Z.J.), Kerqin District First People's Hospital of Tongliao City, Tongliao; and Department of Neurology (D.G.), Affiliated Hospital of Xuzhou Medical College, Xuzhou, China.

Objective: To study the prognostic significance of multiple novel biomarkers in combination after ischemic stroke.

Methods: We derived data from the China Antihypertensive Trial in Acute Ischemic Stroke, and 12 informative biomarkers were measured. The primary outcome was the combination of death and major disability (modified Rankin Scale score ≥3) at 3 months after ischemic stroke, and secondary outcomes included major disability, death, and vascular events. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006717DOI Listing
December 2018

Sleep-disordered breathing among patients admitted for inpatient video-EEG monitoring.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Medicine (S.S., Z.C., A.P., C.J.R., N.C.J., C.F., P.P., P.K., T.J.O.), Neurology (S.S., E.J.W., A.P., C.H., J.C., C.J.R., R.Y., C.F., P.P., P.K., T.J.O.), and Respiratory and Sleep Disorders Medicine (T.M., J.G.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Department of Neuroscience (S.S., Z.C., A.P., N.C.J., C.F., P.P., P.K., T.J.O.), Central Clinical School, Monash University; Department of Neurology (S.S., A.P., P.P., P.K., T.J.O.), The Alfred Hospital; and Neuropsychiatry Unit (S.F., D.V.), The Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Australia.

Objective: To examine the prevalence and risk factors of sleep-disordered breathing (SDB) in individuals with epilepsy and psychogenic nonepileptic seizures (PNES).

Methods: We conducted a cross-sectional study of consecutive patients admitted for inpatient video-EEG monitoring at The Royal Melbourne Hospital, Australia, between December 1, 2011, and July 31, 2017. Participants underwent routine clinical investigations during their monitoring period including polysomnography, neurocognitive testing, and screening instruments of daytime somnolence, sleep quality, and quality of life. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006776DOI Listing
December 2018

Spectrum and time course of epilepsy and the associated cognitive decline in duplication syndrome.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Neurology (D.M., B.S., R.S., D.G., V.N.P., A.M.G.) and Pediatrics (R.S., D.G.), Baylor College of Medicine, Houston, TX.

Objective: We characterized the epilepsy features and contribution to cognitive regression in 47 patients with duplication syndrome (MDS) and reviewed these characteristics in over 280 MDS published cases.

Methods: The institutional review board approved this retrospective review of medical records and case histories of patients with MDS.

Results: The average age at enrollment was 10 ± 7 years. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006742DOI Listing
December 2018

Predicting stroke outcome: Role of a biomarker panel.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Division of Neurology (G.C.J.), University of Alberta, Edmonton, Canada; and Physical Therapy Department (T.L.R.), Federal University of São Carlos, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000006715DOI Listing
December 2018

Using automated electronic medical record data extraction to model ALS survival and progression.

BMC Neurol 2018 Dec 14;18(1):205. Epub 2018 Dec 14.

Department of Neurology, University of Kansas Medical Center, Kansas City, USA.

Background: To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

Methods: We used an Informatics for Integrating Biology and the Bedside search discovery tool to identify and extract data from 354 ALS patients from the University of Kansas Medical Center EMR. The completeness and integrity of the data extraction were verified by manual chart review. Read More

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http://dx.doi.org/10.1186/s12883-018-1208-zDOI Listing
December 2018
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Basal ganglia hemorrhage in a case report following spinal surgery.

BMC Neurol 2018 Dec 14;18(1):204. Epub 2018 Dec 14.

Neurosurgery and Radiology, Neurology Department, University of Minnesota, Minneapolis, MN, USA.

Background: Intracranial hemorrhage is a rare but potentially severe complication of spinal surgery. Most reported post-operative ICH cases consist of cerebellar hemorrhage. There are fewer reported cases of supratentorial ICH following spinal surgery. Read More

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http://dx.doi.org/10.1186/s12883-018-1218-xDOI Listing
December 2018

Genetic drivers of cerebral blood flow dysfunction in TBI: a speculative synthesis.

Nat Rev Neurol 2018 Dec 13. Epub 2018 Dec 13.

Division of Anaesthesia, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.

Cerebral autoregulatory dysfunction after traumatic brain injury (TBI) is strongly linked to poor global outcome in patients at 6 months after injury. However, our understanding of the drivers of this dysfunction is limited. Genetic variation among individuals within a population gives rise to single-nucleotide polymorphisms (SNPs) that have the potential to influence a given patient's cerebrovascular response to an injury. Read More

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http://www.nature.com/articles/s41582-018-0105-9
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http://dx.doi.org/10.1038/s41582-018-0105-9DOI Listing
December 2018
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Intraneuronal implants enable long-term tactile sensation in patients with hand amputation.

Authors:
Charlotte Ridler

Nat Rev Neurol 2018 Dec 12. Epub 2018 Dec 12.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0122-8DOI Listing
December 2018

Neurophysiological and olfactory biomarkers for multiple sclerosis.

Authors:
Heather Wood

Nat Rev Neurol 2018 Dec 12. Epub 2018 Dec 12.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0119-3DOI Listing
December 2018

Nature and implications of sex differences in AD pathology.

Nat Rev Neurol 2018 Dec 12. Epub 2018 Dec 12.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41582-018-0115-7DOI Listing
December 2018
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Parkinson disease gene therapy rewires brain circuits to improve motor function.

Authors:
Charlotte Ridler

Nat Rev Neurol 2018 Dec 12. Epub 2018 Dec 12.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0120-xDOI Listing
December 2018

Sleep deprivation promotes tauopathy in mice.

Authors:
Charlotte Ridler

Nat Rev Neurol 2018 Dec 12. Epub 2018 Dec 12.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0121-9DOI Listing
December 2018

Associations of TBI, PTSD, and depression with dementia risk among female military veterans: Not just men.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From Department of Neurology, Johns Hopkins University School of Medicine, Baltimore; and Department of Neurology, Uniformed Services University of the Health Sciences, Bethesda, MD.

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http://dx.doi.org/10.1212/WNL.0000000000006768DOI Listing
December 2018

A synaptic protein defect associated with reflex seizure disorder.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006720DOI Listing
December 2018

Age and time course of long-term motor and nonmotor complications in Parkinson disease.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From Université Lyon (S.P., T.D., C.L., E.M., E.B., S.T.), Institut des Sciences Cognitives-Marc Jeannerod, CNRS, UMR 5229, Bron; Hospices Civils de Lyon (S.P., T.D., C.C., C.L., E.M., H.M., E.B., S.T.), Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, Centre Expert Parkinson, Bron; Université Lyon (C.L., E.B., D.M.-B., S.T.), Faculté de Médecine Lyon Sud Charles Mérieux, Oullins; Hospices Civils de Lyon (D.M.-B.), Service de Biostatistique, Lyon; and Université Lyon (D.M.-B.), Laboratoire de Biométrie et Biologie Évolutive, CNRS, UMR 5558, Pierre Benite, France.

Objective: To determine the time course of hazard for motor and nonmotor milestones of Parkinson disease (PD) in the long term and to investigate whether risk scales nonlinearly with time is instrumental in identifying changes in pathological processes and evaluating disease-modifying therapies in PD.

Methods: Outpatients with PD at the Lyon University Movement Disorders Center were evaluated for 7 clinical milestones in this retrospective cohort study, encompassing 4 domains of PD progression: (1) motor (motor fluctuations, dyskinesias); (2) axial (postural instability and falls, freezing of gait); (3) neuropsychiatric (impulse control disorders, hallucinations); and (4) cognitive (dementia) complications. For each complication, we estimated the outcome-specific hazard using parsimonious smooth parametric Poisson regression models allowing for nonlinear scaling over disease duration, age at diagnosis, current age, and their interaction. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006737DOI Listing
December 2018
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Military-related risk factors in female veterans and risk of dementia.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the San Francisco Veterans Affairs Health Care System (K.Y., S.J.L., T.D.H., F.X., D.E.B., S.M., C.B.P.); and Departments of Psychiatry (K.Y., D.E.B., S.M.), Neurology (K.Y.), and Epidemiology & Biostatistics (K.Y.), University of California, San Francisco.

Objective: To determine whether diagnoses of traumatic brain injury (TBI), posttraumatic stress disorder (PTSD), and depression, alone or in combination, increase dementia risk among older female veterans.

Methods: This cohort study included data from 109,140 female veterans ≥55 years of age receiving care from Veterans Health Administration medical centers in the United States between October 2004 and September 2015 with at least 1 follow-up visit. TBI, PTSD, depression, and medical conditions at study baseline and incident dementia were determined according to ICD-9-CM codes. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006778DOI Listing
December 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
December 2018
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

BMC Neurol 2018 Dec 12;18(1):203. Epub 2018 Dec 12.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.

Background: Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140 mutations, including large deletion/duplications, in TPP1 genes have been reported in the literature. The present study includes 34 unrelated Indian patients (12 females and 22 males) having epilepsy, visual impairment, cerebral atrophy, and cerebellar atrophy. Read More

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http://dx.doi.org/10.1186/s12883-018-1206-1DOI Listing
December 2018

Plasma homocysteine levels and intracranial plaque characteristics: association and clinical relevance in ischemic stroke.

BMC Neurol 2018 Dec 6;18(1):200. Epub 2018 Dec 6.

Department of Radiology, The First Affiliated Hospital of Nanjing Medical University, No.300 Guangzhou Road, Gulou district, Nanjing, 210029, Jiangsu Province, China.

Background: Elevated plasma homocysteine (Hcy) is an independent risk factor for ischemic stroke. This study aimed to evaluate the association between Hcy levels and intracranial plaque characteristics and to investigate their clinical relevance in ischemic stroke.

Methods: Ninety-four patients with intracranial atherosclerosis (ICAS) were enrolled. Read More

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http://dx.doi.org/10.1186/s12883-018-1203-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282283PMC
December 2018

Mortality & recurrent seizure risk after new-onset seizure in HIV-positive Zambian adults.

BMC Neurol 2018 Dec 7;18(1):201. Epub 2018 Dec 7.

Epilepsy Division, Department of Neurology, University of Rochester School of Medicine & Dentistry, 265 Crittenden Blvd, CU420694, Rochester, NY, 14642-0694, USA.

Background: Recurrent seizure risks in HIV-positive people with new-onset seizure are largely unknown, making it challenging to offer optimal recommendations regarding antiepileptic drug (AED) initiation. Existing outcomes data is limited, and risk factor identification requires a diagnostic assessment, which is often unavailable in regions heavily effected by HIV, like sub-Saharan Africa.

Methods: HIV-positive Zambian adults with new-onset seizure were enrolled in a prospective cohort study to determine seizure recurrence and risk factors for recurrence. Read More

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http://dx.doi.org/10.1186/s12883-018-1205-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284303PMC
December 2018

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Neurol Genet 2018 Dec 13;4(6):e285. Epub 2018 Nov 13.

Department of Neurology (E.M.R., S.P., C.S., F.L., F.Z., A.Z.), Medical University of Vienna, Austria; Institut für Humangenetik (E.G., T.W., T.S.), Helmholtz Zentrum München, Germany; Center for Brain Research (T.Z., H.L.), Medical University of Vienna; Division of Nephrology and Dialysis (C.K.), Department of Internal Medicine III, Medical University of Vienna; Department of Physical Medicine (M.K.), Rehabilitation and Occupational Medicine, Medical University of Vienna, Austria; Lübeck Interdisciplinary Platform for Genome Analytics (C.M.L.), Institutes of Neurogenetics and for Cardiogenetics, University of Lübeck; Department of Neurology and Neuroimaging Center (NIC) (C.M.L.), Focus Program Translational Neuroscience (FTN), University Medical Center of the Johannes Gutenberg University Mainz; Department of Human Genetics (S.H., J.T.E.), Ruhr-University Bochum; Herdecke (J.T.E.), ZBAF, Faculty of Health, University Witten; Department of Neurology (U.K.Z., M.H.), Neuroimmunological Section, University of Rostock; Department of Neurology (A.D.), Department of Clinical Genomics (A.D.), Department of Neuroscience (A.D.), Jeweils Mayo Clinic, Jacksonville, FL; Department of Neurology (S.G.M.), University of Muenster, Germany; Department of Physiology and Biochemistry (M.A., B.M.), School of Medicine, the University of Jordan; The National Center (Institute) for Diabetes (M.E.-K.), Endocrinology and Genetics (NCDEG), Amman, Jordan; Department of Medical Genetics (C.V.-G., A.D.S.), University of British Columbia, Vancouver, Canada; Department of Medical Biochemistry and Microbiology (B.T.), Uppsala University, Sweden; Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria; and Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria.

Objective: To ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS.

Methods: We used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In addition, we performed RNA and protein expression studies, enzymatic activity assays, immunohistochemistry, and targeted sequencing of further MS cases from Austria, Germany, Canada and Jordan. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244017PMC
December 2018
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Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense mutation.

Neurol Genet 2018 Dec 25;4(6):e284. Epub 2018 Oct 25.

Department of Neurology (R.D.), SUNY Downstate Medical Center, Brooklyn; Department of Neurology (A.V., R.T.), University of Rochester Medical Center; and Department of Neurology (S.T.), Stony Brook School of Medicine, NY.

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http://dx.doi.org/10.1212/NXG.0000000000000284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244022PMC
December 2018

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia.

Neurol Genet 2018 Dec 16;4(6):e283. Epub 2018 Oct 16.

Department of Neurology (M.T., M.M.), Otsu Red Cross Hospital; Department of Neurology (M.T., R.H., H. Yamakado, H. Yamashita, R.T.), Kyoto University Hospital, Otsu, Japan; Murakami Clinic (G.M.), Kyoto, Japan; Department of Neurology (H. Yamashita), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244019PMC
December 2018

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.

Neurol Genet 2018 Dec 22;4(6):e282. Epub 2018 Oct 22.

Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.

Objective: To report a new missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction.

Methods: We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244021PMC
December 2018

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Neurol Genet 2018 Dec 7;4(6):e281. Epub 2018 Nov 7.

Objective: To provide new insights into the related clinical and imaging phenotypes and refine the phenotype-genotype correlation in syndrome.

Methods: We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic variant and performed phenotype-genotype correlations.

Results: A total of 37 different heterozygous mutations were identified, of which 18 are novel. Read More

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244024PMC
December 2018
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Molecular pathogenesis of human CD59 deficiency.

Neurol Genet 2018 Dec 26;4(6):e280. Epub 2018 Oct 26.

Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

Objective: To characterize all 4 mutations described for CD59 congenital deficiency.

Methods: The 4 mutations, p.Cys64Tyr, p. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244018PMC
December 2018

Novel genotype-phenotype and MRI correlations in a large cohort of patients with mutations.

Neurol Genet 2018 Dec 24;4(6):e279. Epub 2018 Oct 24.

Academic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.

Objective: To clinically, genetically, and radiologically characterize a large cohort of patients.

Methods: We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in . We analyzed MRI. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244025PMC
December 2018

Anti-inflammatory effects of dietary vitamin D in patients with multiple sclerosis.

Neurol Genet 2018 Dec 14;4(6):e278. Epub 2018 Nov 14.

School of Nutrition and Food Sciences (R.H., M.M), Tabriz University of Medical Sciences; Road Traffic Injury Research Center (M.A.-J), Tabriz University of Medical Sciences; Ardabil Province (D.A.); Department of Genetics (S.S.H.-A.), School of Medicine, Ardabil University of Medical Sciences; Department of Biochemistry and Diet Therapy (S.R.-A.), School of Nutrition and Food Sciences, Tabriz University of Medical Sciences, Iran.

Objective: To assess the effects of dietary vitamin D on proinflammatory (interleukin-17A [IL-17A] and IL-6) and anti-inflammatory (IL-10) cytokines.

Methods: Our study was conducted on 75 participants who were divided into 3 groups: multiple sclerosis participants (MSPs, n = 25), first-degree relative participants (FDRPs, n = 25), and healthy participants (HPs, n = 25). All groups received 50,000 IU vitamin D/wk for 8 weeks. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244020PMC
December 2018

Olfactory and other sensory impairments in Alzheimer disease.

Authors:
Claire Murphy

Nat Rev Neurol 2018 Dec 10. Epub 2018 Dec 10.

Department of Psychology, San Diego State University, San Diego, CA, USA.

The vast increase in Alzheimer disease (AD) worldwide has grave implications for individuals, family support systems and the health-care systems that will attempt to cope with the disease. Early markers of the disease are essential for efficient selection of clinical trial participants for drug development and for timely treatment once an intervention becomes available. There is avid interest in noninvasive, inexpensive markers that have the potential to identify prodromal AD. Read More

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http://dx.doi.org/10.1038/s41582-018-0097-5DOI Listing
December 2018

Could HIV drugs treat AD?

Authors:
Ian Fyfe

Nat Rev Neurol 2018 Dec 10. Epub 2018 Dec 10.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0118-4DOI Listing
December 2018

First genetic risk loci for ADHD identified.

Authors:
Charlotte Ridler

Nat Rev Neurol 2018 Dec 7. Epub 2018 Dec 7.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0117-5DOI Listing
December 2018

Oligodendrocytes - active accomplices in MS pathogenesis?

Authors:
Charlotte Ridler

Nat Rev Neurol 2018 Dec 7. Epub 2018 Dec 7.

Nature Reviews Neurology, .

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http://dx.doi.org/10.1038/s41582-018-0111-yDOI Listing
December 2018

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

Objective: To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX).

Methods: In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006731DOI Listing
December 2018

Translating the biology of aging into novel therapeutics for Alzheimer disease.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Alzheimer's Drug Discovery Foundation, New York, NY.

Aging is the leading risk factor for most chronic illnesses of old age, including Alzheimer disease (AD), a progressive neurodegenerative disease with currently no therapies that prevent, slow, or halt disease progression. Like other chronic diseases of old age, the progressive pathology of AD begins decades before the onset of symptoms. Many decades of research in biological gerontology have revealed common processes that are relevant to understanding why the aging brain is vulnerable to AD. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006745DOI Listing
December 2018

Tau imaging detects distinctive distribution of tau pathology in ALS/PDC on the Kii Peninsula.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Departments of Functional Brain Imaging Research (H. Shinotoh, H. Shimada, K.T., S.K., M.O., Y. Kimura, S.H., M.I., N.S., T.S., M.H.) and Radiopharmaceuticals Development (M.-R.Z.), National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba; Neurology Clinic Chiba (H. Shinotoh); Kii ALS/PDC Research Center (Y. Kokubo), Mie University; Department of Neurology and Gerontology (F.N.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Psychiatry (S.K.), Nara Medical University; Division of Neurology (H.E.), Kobe University Graduate School of Medicine, Hyogo; Center for Development of Advanced Medicine for Dementia, Department of Neurology (Y. Kimura), National Institute for Geriatrics and Gerontology, Aichi; Department of Neurology (S.H.), Chiba University; and Department of Neuropathology (M.M.), Institute for Medical Science of Aging, Aichi Medical University, Japan.

Objective: To characterize the distribution of tau pathology in patients with amyotrophic lateral sclerosis/parkinsonism dementia complex on the Kii Peninsula (Kii ALS/PDC) by tau PET using [C]PBB3 as ligand.

Methods: This is a cross-sectional study of 5 patients with ALS/PDC and one asymptomatic participant with a dense family history of ALS/PDC from the Kii Peninsula who took part in this study. All were men, and their age was 76 ± 8 (mean ± SD) years. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006736DOI Listing
December 2018

Development and validation of a score to detect paroxysmal atrial fibrillation after stroke.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Neurology (T.U., K.G.), and Institute of Medical Biostatistics, Epidemiology and Informatics (G.T., A.J.-E.), University Medical Center of the Johannes Gutenberg University Mainz; Department of Cardiology and Pneumology (M.W.-K.), University of Göttingen; Clinic and Policlinic for Cardiology (R.W.), University Hospital Leipzig, Germany; Department of Neurology (M.G.), Kreisklinikum Siegen; Darmstadt University of Applied Sciences (A.J.-E.); Department of Neurology (M.J.), Hainich Klinikum, Mühlhausen, Germany; Institute of Cardiovascular Sciences (P.K.), University of Birmingham; and Department of Cardiology (P.K.), SWBH and UHB NHS Trusts, Birmingham, UK.

Objective: Prolonged monitoring times (72 hours) are recommended to detect paroxysmal atrial fibrillation (pAF) after ischemic stroke but this is not yet clinical practice; therefore, an individual patient selection for prolonged ECG monitoring might increase the diagnostic yield of pAF in a resource-saving manner.

Methods: We used individual patient data from 3 prospective studies (n = 1,556) performing prolonged Holter-ECG monitoring (at least 72 hours) and centralized data evaluation after TIA or stroke in patients with sinus rhythm. Based on the TRIPOD (Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis) guideline, a clinical score was developed on one cohort, internally validated by bootstrapping, and externally validated on 2 other studies. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006727DOI Listing
December 2018

ECG monitoring after acute ischemic stroke: Does patient selection matter?

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Neurology (M.K.), University Hospital of Zurich, Switzerland; and Cardiac Arrhythmia Service and Cardiovascular Research Center (S.A.L.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000006719DOI Listing
December 2018

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Pediatrics and Neurology (G.V.R.), Division of Pediatric Neurology, Penn State Children's Hospital, Hershey, PA; and Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX.

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http://dx.doi.org/10.1212/WNL.0000000000006721DOI Listing
December 2018

Teaching NeuroImages: Severe myelopathy due to epidural lipomatosis.

Neurology 2018 Dec;91(24):e2282-e2283

From the Department of Neurology (W.A.D., G.S.) and Department of Radiology and Medical Imaging, Division of Neuroradiology (J.D.), University of Virginia, Charlottesville.

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http://dx.doi.org/10.1212/WNL.0000000000006639DOI Listing
December 2018

Teaching NeuroImages: Hemimeningitis mimicking acute ischemic stroke.

Neurology 2018 Dec;91(24):e2280-e2281

From Neurology Service, Hospital Universitario "Dr. José E. González," Universidad Autónoma de Nuevo León; Monterrey, NL, México.

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http://dx.doi.org/10.1212/WNL.0000000000006655DOI Listing
December 2018

Education Research: Simulation training for neurology residents on acquiring tPA consent: An educational initiative.

Neurology 2018 Dec;91(24):e2276-e2279

From the Departments of Neurology (S.K.R., A.M.K., L.J.B., K.I., S.L.G., A.L.) and Medicine (S.Z.), New York University School of Medicine, New York.

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http://dx.doi.org/10.1212/WNL.0000000000006651DOI Listing
December 2018