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Neurol Sci 2018 Dec 10. Epub 2018 Dec 10.

Department of Neurology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221002, China.

Objective: To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understanding of the disease.

Methods: A retrospective study was performed on 15 patients with GMH diagnosed at The Affiliated Hospital of Xuzhou Medical University from November 2014 to November 2016. Their clinical and imaging features are also summarized. Read More

Neural Regen Res 2019 Feb;14(2):272-279

Department of Radiology, Xiamen Second Hospital, Xiamen, Fujian Province, China.

The location of an acute ischemic stroke is associated with its prognosis. The widely used Gaussian model-based parameter, apparent diffusion coefficient (ADC), cannot reveal microstructural changes in different locations or the degree of infarction. This prospective observational study was reviewed and approved by the Institutional Review Board of Xiamen Second Hospital, China (approval No. Read More

Pediatr Neonatol 2018 Dec;59(6):541-542

Department of Pediatrics, National Taiwan University Hospital, National Taiwan University, Medical College, No. 8, Chung-Shan South Road, Taipei 100, Taiwan.

Cell Rep 2018 Dec;25(10):2729-2741.e6

Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand. Electronic address:

The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions. We analyzed the exomes of 65 patients with the structural brain malformation periventricular nodular heterotopia (PH). Read More

PLoS One 2018 5;13(12):e0207298. Epub 2018 Dec 5.

Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University, School of Medicine, New Haven, Connecticut, United states of America.

We aimed to test the hypothesis that determinants of the perinatal clinical exposome related to the underlying etiology of premature birth (PTB) impact differently on select neonatal outcomes. We conducted a prospective longitudinal study of 377 singleton preterm neonates [gestational age (GA) at birth: 23-34 weeks] separated into three distinct contemporaneous newborn cohorts: i) spontaneous PTB in the setting of intra-amniotic infection/inflammation (yes-IAI, n = 116); ii) spontaneous PTB in the absence of IAI (no-IAI, n = 130), and iii) iatrogenic PTB for preeclampsia (iPTB-PE, n = 131). Newborns (n = 372) were followed until death or discharge. Read More

Glia 2018 11;66(11):2456-2469

Department of Biomedical Sciences, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee.

Astrocyte-derived ciliary neurotrophic factor (CNTF) promotes adult subventricular zone (SVZ) neurogenesis. We found that focal adhesion kinase (FAK) and JNK, but not ERK or P38, repress CNTF in vitro. Here, we defined the FAK-JNK pathway and its regulation of CNTF in mice, and the related leukemia inhibitory factor (LIF) and interleukin-6 (IL-6), which promote stem cell renewal at the expense of neurogenesis. Read More

J Comp Neurol 2018 Nov 30. Epub 2018 Nov 30.

University at Albany, Department of Psychology, Albany, NY.

Corticotropin-releasing factor binds with high affinity to CRF receptor 1 (CRFR1) and is implicated in stress-related mood disorders such as anxiety and depression. Using a validated CRFR1-green fluorescent protein (GFP) reporter mouse, our laboratory recently discovered a nucleus of CRFR1 expressing cells that is prominent in the female rostral anteroventral periventricular nucleus (AVPV/PeN), but largely absent in males. This sex difference is present in the early postnatal period and remains dimorphic into adulthood. Read More

Cell Tissue Res 2018 Nov 29. Epub 2018 Nov 29.

Institute of Anatomy II, Jena University Hospital, Teichgraben 7, 07743, Jena, Germany.

Localization and distribution of hypothalamic neurons expressing the nonapeptide oxytocin has been extensively studied. Their projections to the neurohypophyseal system release oxytocin into the systemic circulation thus controlling endocrine events associated with reproduction in males and females. Oxytocinergic neurons seem to be confined to the ventral hypothalamus in all mammals. Read More

Hum Reprod 2018 Nov 29. Epub 2018 Nov 29.

Department of Neonatal Medicine, Angers University Hospital, Angers, France.

Study Question: Is assisted conception associated with neonatal morbidity and mortality and with neurodevelopmental impairment at 2 years of corrected age in preterm infants born before 34 weeks of gestational age?

Summary Answer: Assisted conception is not associated with an increase in neonatal morbidity and mortality and is even significantly associated with a better 2-year neurodevelopmental outcome in preterm infants.

What Is Known Already: Assisted conception appears to increase the rate of preterm births, though few studies have analysed outcomes for these preterm infants.

Study Design, Size, Duration: This prospective observational study included 703 preterm infants born between January 2009 and December 2013 and 573 of them were assessed at 2 years of corrected age. Read More

Eur Radiol 2018 Nov 28. Epub 2018 Nov 28.

Department of Radiology, Konkuk University Medical Center, Konkuk University School of Medicine, 120-1 Neungdong-ro, Gwangjin-gu, Seoul, 05030, Republic of Korea.

Objectives: White matter hyperintensities (WMHs) are implicated in the etiology of dementia. The underlying pathology of WMHs involves myelin and axonal loss due to chronic ischemia. We investigated myelin loss in WMHs and normal-appearing white matter (NAWM) in patients with various degrees of cognitive impairment using quantitative synthetic magnetic resonance imaging (MRI). Read More

J Ultrasound Med 2018 Nov 27. Epub 2018 Nov 27.

Department of Ultrasound, The Second Xiangya Hospital, Central South University, Hunan Province, China.

Objectives: The aim of this study was to investigate whether the measurement of brain tissue stiffness using acoustic radiation force impulse (ARFI) elastography with virtual touch tissue quantification can improve the early detection of neonatal hypoxic-ischemic brain damage in rats.

Methods: Seven-day-old Sprague-Dawley rats were randomly assigned to 3 groups: the mild asphyxia (n = 30), moderate asphyxia (n = 30), and sham control (n = 10) groups. Rats in the mild and moderate asphyxia groups were exposed to 8% oxygen (hypoxia) for 30 and 60 minutes, respectively, at 1 hour after ligation of the right common carotid artery. Read More

Eur J Radiol Open 2018 16;5:215-220. Epub 2018 Nov 16.

Department of Radio-diagnosis, Dr RPGMC, Kangra, Tanda, Himachal Pradesh, India.

Background And Purpose: Neonatal hypoxic-ischemic encephalopathy causes hypoxic brain injury. Due to differences in brain maturity at time of insult, severity of hypotension and duration of insult, there are four distinct patterns of brain injury. Magnetic resonance imaging is the most sensitive modality for evaluating these patterns of brain injury. Read More

Ann Clin Transl Neurol 2018 Nov 23;5(11):1314-1322. Epub 2018 Sep 23.

Division of Neurology Department of Medicine Krembil Neuroscience Centre Toronto Western Hospital University of Toronto Toronto Ontario Canada.

Objective: We aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH. Read More

Pediatr Neurol 2018 Sep 25. Epub 2018 Sep 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

Background: Mutations in AIMP1, which plays an important role in the development and maintenance of axon-cytoskeleton integrity and regulating neurofilaments, cause neurodegeneration of variable severity and white matter abnormalities.

Methods: From the patient records we analyzed the clinical evaluation, molecular genetics, neurodiagnostic, and neuroradiological investigations.

Results: We describe six members of a large consanguineous family with a phenotype of severe neurodegeneration in the form of developmental delays, progressive microcephaly, epilepsy, and failure to thrive. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2018 Nov;20(11):897-903

Department of Neonatology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong 518020, China.

Objective: To systematically evaluate the clinical efficacy of nasal high-frequency ventilation (nHFV) in the treatment of neonatal respiratory distress syndrome (NRDS).

Methods: A literature search was performed in PubMed, Cochrane Library, EMBase (Ovid), Chinese Biomedical Literature Database, Chinese Journal Full-text Database, Wanfang Data, and Weipu Data to collect the randomized controlled trials (RCTs) that compared the clinical efficacy of nHFV and nasal continuous positive airway pressure (nCPAP) in the treatment of NRDS. A Meta analysis was performed on the included RCTs using Rev Man 5. Read More

Am J Med Genet A 2018 Nov 26. Epub 2018 Nov 26.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (ODC1) is the rate-limiting enzyme in endogenous polyamine synthesis. In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain-of-function variants in the ODC1 gene. Read More

Curr Opin Neurobiol 2018 Nov 21;56:16-23. Epub 2018 Nov 21.

Department of Molecular Neurosciences, Center for Brain Research, Medical University of Vienna, A-1090 Vienna, Austria; Department of Neuroscience, Karolinska Institutet, SE-17165 Solna, Sweden. Electronic address:

Volume transmission is a mode of intercellular communication using cerebral liquor to deliver signal molecules over long distances and allow their action for extended periods. For hypothalamic neuropeptides, nerve endings amongst ependymal cells are seen as a site of release into the cerebrospinal fluid. Recent single-cell RNA-seq data identify tanycytes and ventricular ependyma as alternative sources by being unexpectedly rich in neuroactive substances. Read More

Front Mol Neurosci 2018 8;11:409. Epub 2018 Nov 8.

Department of Brain and Cognitive Science, Massachusetts Institute of Technology, Cambridge, MA, United States.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder affecting the brain and other vital organs. Neurological symptoms include epilepsy, intellectual disability, and autism. TSC is caused by a loss-of-function mutation in the or gene. Read More

Eur J Paediatr Neurol 2018 Sep 11. Epub 2018 Sep 11.

Departments of Child Health, Obstetrics and Gynaecology and Radiology, University Hospital Southampton, United Kingdom; Clinical and Experimental Sciences, University of Southampton, United Kingdom.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Read More

Neurol Sci 2018 Nov 21. Epub 2018 Nov 21.

Otolaryngology Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.

Epidemiological evidence suggests a strict correlation between sudden sensorineural hearing loss (SSNHL) and cerebrovascular disorders. Leukoaraiosis represents a diffuse alteration of the periventricular and subcortical white matter. The aim of our study was to verify if the presence of white matter hyperintensity (WMH) was higher in patients affected by SSNHL compared to controls and evaluate the correlation between WMH and the cardiovascular risk factors, hearing level, and the response to therapy in SSNHL patients. Read More

J Neuroimaging 2018 Nov 20. Epub 2018 Nov 20.

Department of Neurology, McGovern Medical School, University of Texas Health Science Center (UTHSC), Houston, TX (KY, CEM, ZK, OH, PES).

Background And Purpose: Ventricular enlargement in elderly raises a challenging differential diagnosis to physicians. While Alzheimer's disease is the most common form of dementia, idiopathic normal pressure hydrocephalus (iNPH) constitutes a potentially reversible syndrome. iNPH has a unique pathophysiology pertaining to cerebrospinal fluid (CSF) dynamics and periventricular white matter. Read More

Reprod Sci 2018 Nov 20:1933719118813456. Epub 2018 Nov 20.

1 Department of Obstetrics and Gynecology, Shimane University School of Medicine, Izumo, Japan.

Kisspeptin, encoded by the Kiss-1 gene, plays a crucial role in reproductive function by governing the hypothalamic-pituitary-gonadal axis. The recently established Kiss-1-expressing cell model mHypoA-50 displays characteristics of neuronal cells of the anteroventral periventricular (AVPV) region of the mouse hypothalamus. Because Kiss-1 gene expression in these cells is upregulated by estradiol (E2), mHypoA-50 cells are regarded as a valuable model for the study of Kiss-1-expressing neurons in the AVPV region. Read More

Epilepsy Behav Case Rep 2019 9;11:4-9. Epub 2018 Oct 9.

Epilepsy Center, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

We describe a patient with unilateral periventricular nodular heterotopia (PNH) and drug-resistant epilepsy, whose SEEG revealed that seizures were arising from the PNH, with the almost simultaneous involvement of heterotopic neurons ("micronodules") scattered within the white matter, and subsequently the overlying cortex. Laser ablation of heterotopic nodules and the adjacent white matter rendered the patient seizure free. This case elucidates that "micronodules" scattered in white matter between heterotopic nodules and overlying cortex might be another contributor in complex epileptogenicity of heterotopia. Read More

Front Neurosci 2018 5;12:807. Epub 2018 Nov 5.

Department of Pharmacology, Department of Anatomy, School of Basic Medical Sciences, State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Fudan University, Shanghai, China.

The suprachiasmatic nucleus (SCN) is the principal pacemaker driving the circadian rhythms of physiological behaviors. The SCN consists of distinct neurons expressing neuropeptides, including arginine vasopressin (AVP), vasoactive intestinal polypeptide (VIP), gastrin-releasing peptide (GRP), cholecystokinin (CCK), and so on. AVP, VIP, and GRP neurons receive light stimulation from the retina to synchronize endogenous circadian clocks with the solar day, whereas CCK neurons are not directly innervated by retinal ganglion cells and may be involved in the non-photic regulation of the circadian clock. Read More

Brain Dev 2018 Nov 14. Epub 2018 Nov 14.

Department of Pediatrics, Yokohama City University Medical Center, Japan.

Background: Myelin oligodendrocyte glycoprotein antibodies (MOG Abs) are frequently detected in pediatric acquired demyelinating syndrome (ADS), and MOG-Ab-positive ADS differs from multiple sclerosis (MS) and aquaporin-4 (AQP4)-Ab-positive neuromyelitis optica spectrum disorder (NMOSD) in terms of age distribution, therapeutic response, and prognosis.

Methods: Based on medical records, we retrospectively evaluated patients with MOG-Ab-positive NMOSD treated in the acute phase who were followed up in the chronic phase at our hospital from January 2011 to December 2017.

Results: The patients comprised two boys and two girls aged 3-12 (median, 8) years. Read More

Hum Brain Mapp 2018 Nov 17. Epub 2018 Nov 17.

Calgary Pediatric Stroke Program, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.

Perinatal stroke causes lifelong disability, particularly hemiparetic cerebral palsy. Arterial ischemic strokes (AIS) are large, cortical, and subcortical injuries acquired near birth due to acute occlusion of the middle cerebral artery. Periventricular venous infarctions (PVI) are smaller, subcortical strokes acquired prior to 34 weeks gestation involving injury to the periventricular white matter. Read More

Pediatrics 2018 Dec 16;142(6). Epub 2018 Nov 16.

Department of Pediatrics, Graduate School of Medical Sciences and.

Objectives: To determine neurodevelopmental outcomes at 3 years of age in children born with a birth weight (BW) of ≤500 g.

Methods: Infants who were born with a BW of ≤500 g from 2003 to 2012 in the Neonatal Research Network of Japan and survived to discharge from the NICU were eligible in this study. The study population consisted of 460 children (56. Read More

Transl Stroke Res 2018 Nov 15. Epub 2018 Nov 15.

Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, Canada.

White matter hyperintensities (WMH) are presumed to indicate subcortical ischemic vascular disease but their underlying pathobiology remains incompletely understood. The soluble epoxide hydrolase (sEH) enzyme converts anti-inflammatory and vasoactive cytochrome p450-derived polyunsaturated fatty acid epoxides into their less active corresponding diol species. Under the hypothesis that the activity of sEH might be associated with subcortical ischemic vascular disease and vascular cognitive impairment, this study aimed to compare the relative abundance of sEH substrates and products in peripheral blood between patients with extensive WMH (discovered due to transient ischemic attack; n = 29) and healthy elderly with minimal WMH (n = 25). Read More

Bipolar Disord 2018 Nov 13. Epub 2018 Nov 13.

Centre for Youth Bipolar Disorder, Sunnybrook Health Sciences Centre 2075, Bayview Ave, FG-53 Toronto, ON M4N 3M5, Canada.

Objectives: Cardiovascular disease (CVD) is excessive and premature among individuals with bipolar disorder (BD). Cerebrovascular reactivity (CVR), reflecting vasodilatory capacity of cerebral blood vessels in response to vasoactive substances, is a marker of cerebrovascular health. Despite informative findings in other diseases, CVR has not previously been examined in BD. Read More

Am J Med Genet B Neuropsychiatr Genet 2018 Dec 13;177(8):736-745. Epub 2018 Nov 13.

Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas.

Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). Read More

Protein Cell 2018 Nov 12. Epub 2018 Nov 12.

Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.

Detection of moving objects is an essential skill for animals to hunt prey, recognize conspecifics and avoid predators. The zebrafish, as a vertebrate model, primarily uses its elaborate visual system to distinguish moving objects against background scenes. The optic tectum (OT) receives and integrates inputs from various types of retinal ganglion cells (RGCs), including direction-selective (DS) RGCs and size-selective RGCs, and is required for both prey capture and predator avoidance. Read More

Brain Res 2018 Dec 2;1700:19-30. Epub 2018 Jul 2.

Department of Psychology, McGill University, Montreal, QC H3A 1B1, Canada. Electronic address:

The present study was undertaken because no previous developmental studies exist on MCH neurons in any avian species. After validating a commercially-available antibody for use in chickens, immunohistochemical examinations first detected MCH neurons around embryonic day (E) 8 in the posterior hypothalamus. This population increased thereafter, reaching a numerical maximum by E20. Read More

Mult Scler Relat Disord 2018 Oct 30;27:254-259. Epub 2018 Oct 30.

Department of Neurology, Beijing Jishuitan Hospital, Xinjiekou No. 31 East Street, Xicheng District, Beijing 100035, China. Electronic address:

Objective: The aims of this study were to report brain characteristic abnormalities and to evaluate the relationship of blood-brain barrier (BBB) disruption and brain lesions in Chinese patients with NMOSD.

Methods: Brain magnetic resonance imaging characteristics and cerebrospinal fluid (CSF) laboratory tests of 121 patients with NMOSD at acute attack were reviewed retrospectively. Qalb (CSF albumin/serum albumin) was used for assessment of disruption of BBB. Read More

Can J Neurol Sci 2018 Nov 12:1-8. Epub 2018 Nov 12.

4Faculty of Engineering,Department of Biomedical Engineering,Izmir University of Economics,Balcova,Izmir,Turkey.

Background: As cognitive impairment increases with age, sulcal atrophy (SA) and the enlargement of the ventricles also increase. Considering the measurements on the previously proposed visual scales, a new scale is proposed in this study that allows us to evaluate the atrophy, white matter hyperintensities (WMHs), basal ganglia infarct (BGI), and infratentorial infarct (ITI) together. Our aim of this study is to propose a practical and standardized MRI for the clinicians to be used in daily practice. Read More

J Pediatr 2018 Nov 7. Epub 2018 Nov 7.

Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Australia; Department of Clinical Sciences, Murdoch Children's Research Institute, Melbourne, Australia. Electronic address:

Objective: To investigate the association between white matter diffuse excessive high signal intensity (DEHSI) on neonatal magnetic resonance imaging in very preterm infants and neurobehavioral outcomes at the age of 13 years.

Study Design: Magnetic resonance images of very preterm children (<30 weeks gestational age or <1250 g birth weight) were evaluated at term-equivalent age with DEHSI classified into 5 grades. Additionally, visibility of the posterior periventricular crossroads was assessed. Read More

Neurology 2018 Nov 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

Objective: To characterize the neurologic phenotypes associated with mutations and to seek genotype-phenotype correlation.

Methods: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with mutations.

Results: Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype. Read More

J Affect Disord 2018 Nov 2;245:228-236. Epub 2018 Nov 2.

School of Psychiatry, University of New South Wales, Randwick, NSW, Australia; Black Dog Institute, Prince of Wales Hospital, Randwick, NSW, Australia.

Background: Increased white matter hyperintensities (WMHs) is one of the most consistent imaging findings amongst participants with bipolar disorder (BD). This study investigated WMHs in a young population at high genetic risk for bipolar disorder (HR).

Methods: MRI scans were conducted at baseline in HR individuals (n = 131), patients with BD (n = 47) and controls (CON) (n = 108). Read More

Front Aging Neurosci 2018 17;10:330. Epub 2018 Oct 17.

Lab of Psychology, Department of Experimental and Cognitive Psychology, School of Psychology, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Recent studies have shown that patients diagnosed with Vascular Dementia (VaD) exhibit deficits in executive functions. According to "vascular hypothesis of cognitive aging," community-dwelling older adults having risk factors for vascular disease development (RVD) may suffer from cognitive decline of the same type. The aim of the study was to assess the level of specific executive functions (EF) that have been revealed as most affected by vascular abnormalities, in older adults with incipient VaD and RVD. Read More

AJNR Am J Neuroradiol 2018 Nov 8. Epub 2018 Nov 8.

From the Departments of Neurosciences (A.H.A., S.B., A.A.-S., F.S.A.-A., B.M., A.A.).

Background And Purpose: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. The disease is caused by biallelic pathogenic variants in the gene. The purpose of this study was to describe the spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome. Read More

J Stroke Cerebrovasc Dis 2018 Nov 5. Epub 2018 Nov 5.

Department of Physical Therapy, University of British Columbia, Vancouver, Canada. Electronic address:

Background And Aims: In addition to overt stroke lesions, co-occurring covert lesions, including white matter hyperintensities (WMH) and covert lacunar infarcts (CLI), contribute to poststroke outcome. The purpose of this study was to examine the relationship between covert lesions, and motor and cognitive outcomes in individuals with chronic stroke.

Methods: Volumetric quantification of clinically overt strokes, covert lesions (periventricular and deep: pWMH, dWMH, pCLI, dCLI), ventricular and sulcal CSF (vCSF, sCSF), and normal appearing white (NAWM) and gray matter (NAGM) was performed using structural magnetic resonance imaging. Read More

Front Neurol 2018 24;9:903. Epub 2018 Oct 24.

College of Medicine, Chang Gung University, Taoyuan, Taiwan.

We aimed to evaluate the occurrence, treatment, and outcomes of neurological complications after bacterial meningitis in young infants. A case series study from a retrospective cohort from two tertiary-level medical centers in Taiwan between 2007 and 2016 was conducted. Eighty-five young infants aged < 90 days with bacterial meningitis were identified. Read More

Mol Genet Genomic Med 2018 Nov 4. Epub 2018 Nov 4.

Department of Human Genetics, Medical Center, University of Regensburg, Regensburg, Germany.

Background: Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7).

Methods: Case report based on NGS sequencing.

Results: Here, we describe a girl with a novel heterozygous NEDD4L missense variant, p. Read More

Eur J Med Genet 2018 Dec 1;61(12):773-782. Epub 2018 Nov 1.

Université Paris Descartes - Sorbonne Paris Cités, France; Institut Imagine-INSERM UMR-1163, Embryology and genetics of congenital malformations, France; Pediatric Neurology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

Objectives: Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and outcome. There is a paucity of comprehensive description detailing the prenatal diagnosis of PNH. The aim of this study is to report neuroimaging features and correlated outcomes in order to delineate the spectrum of prenatally diagnosed PNH. Read More

AJNR Am J Neuroradiol 2018 Nov 1. Epub 2018 Nov 1.

Department of Neurology (J.G.), New York University School of Medicine, New York, New York.

Background And Purpose: Normal Pressure Hydrocephalus is a reversible form of dementia characterized by enlarged ventricles, which can deform and cause disruptions to adjacent white matter fibers. The purpose of this work was to examine how diffusion and kurtosis parameters vary along the corticospinal tract and determine where along this path microstructure is compromised in patients diagnosed with normal pressure hydrocephalus. We hypothesized that disruption of the corticospinal tract from ventricular enlargement can be measured using diffusion MR imaging and this will be quantified in periventricular regions. Read More

Dysphagia 2018 Oct 31. Epub 2018 Oct 31.

Department of Rehabilitation Medicine, Bundang Jesaeng General Hospital, 20, Seohyeon-ro 180 beon-gil, Bundang-gu, Seoungnam-si, Gyeonggi-do, 13590, Republic of Korea.

Older patients with stroke have poor functional prognosis compared to younger patients. Patients with stroke who have severe white matter (WM) lesions have been reported to have swallowing problems. The aim of this study was to determine whether the location of WM lesions affects swallowing function in older patients with mild stroke. Read More

Mult Scler 2018 Oct 31:1352458518771872. Epub 2018 Oct 31.

Neurology Department, Penteli Children's Hospital, Attica, Greece.

A 13-year-old girl presented with a 5-day history of oscillopsia. On examination, ocular flutter and mild cerebellar signs were found. Brain magnetic resonance imaging (MRI) revealed four periventricular and subcortical non-enhancing lesions. Read More

Brain Behav 2018 Oct 31:e01149. Epub 2018 Oct 31.

Department of Neurology, Laboratory of Neurological Diseases, Changzhou No. 2 People's Hospital, The Affiliated Hospital of Nanjing Medical University, Changzhou, China.

Objectives: We aimed to investigate effects of deep white matter hyperintensity (DWMH) and periventricular hyperintensity (PVH) on the efficacy of intravenous thrombolysis (IVT) in patients with acute ischemic stroke (AIS).

Methods: A total of 113 AIS patients with WMH were categorized into the PVH group and the DWMH group according to the lesion location, with the division of two subgroups based on whether or not they received IVT treatment: the thrombolysis group and the control group. Kaplan-Meier analysis was used for proportional hazards of recurrent stroke. Read More

J Am Heart Assoc 2018 Nov;7(21):e010533

1 School of Biomedical Engineering and Imaging Sciences King's College London London United Kingdom.

Background Cardiovascular risk factors vary between ethnicities but little is known about their differential effects on white matter hyperintensities ( WMH ), an indicator of brain aging and burden of cerebrovascular disease. Methods and Results Brain magnetic resonance imaging scans from 213 people of South Asian and 256 of European ethnicity (total=469) were analyzed for global and regional WMH load. Associations with cardiovascular risk factors and a composite cardiovascular risk score (National Cholesterol Education Programme Adult Treatment Panel III) were compared by ethnicity, diabetes mellitus, smoking, and hypertension status. Read More

J Neuroimaging 2018 Oct 30. Epub 2018 Oct 30.

Department of Radiology, University of British Columbia, Vancouver, British Columbia, Canada.

Background And Purpose: Multiple sclerosis (MS) diffusely abnormal white matter (DAWM) is a mildly hyperintense magnetic resonance imaging abnormality distinct from typical lesions. Our goal was to investigate the prevalence and natural history of DAWM in a large cohort (n = 348) of relapsing-remitting MS (RRMS) patients.

Methods: The presence of DAWM and relationship to changes in T burden of disease (BOD), brain volume (brain fractional ratio, BFR), and disability (Expanded Disability Status Scale, EDSS) were investigated at baseline and year 7-8 (long-term follow-up, LTF). Read More

Ecotoxicol Environ Saf 2019 Jan 24;167:412-421. Epub 2018 Oct 24.

State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 211166, China; Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 211166, China; Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, China. Electronic address:

Perfluorooctanoate (PFOA) and perfluorooctane sulfonate (PFOS) are widespread and persistent chemicals in the environment, and limited data about their effects on puberty development are available. In order to explore the effects of neonatal and juvenile PFOA/PFOS exposure on puberty maturation, female rats were injected with PFOA or PFOS at 0.1, 1 and 10 mg/kg/day during postnatal day (PND) 1-5 or 26-30. Read More