Neurology Commons^™

The Relationship Of Cpe To Hiv Dementia: Slain By An Ugly Fact?, Joseph R. Berger, David B. Clifford

Neurology Faculty Publications

No abstract provided.

Vulnerability Of The Ventral Language Network In Children With Focal Epilepsy, Louise J. Croft, Torsten Baldeweg, Leigh Sepeta, Lauren Zimmaro, Madison M. Berl, William D. Gaillard

Neurology Faculty Publications

Children with focal epilepsy are at increased risk of language impairment, yet the neural substrate of this dysfunction is not yet known. Using functional magnetic resonance imaging we investigated the impact of focal epilepsy on the developing language system using measures of network topology (spatial organization of activation) and synchrony (functional connectivity). We studied healthy children (n = 48, 4–12 years, 24 females) and children with focal epilepsy (n = 21, 5–12 years, nine females) with left hemisphere language dominance. Participants performed an age-adjusted auditory description decision task during functional magnetic resonance imaging, to identify perisylvian language regions. …

Reduction In Post-Botulinum Toxin Flu-Like Symptoms After Injection With Incobotulinum Toxin, Edwin George, Natalya Shneyder

Neurology Faculty Publications

OBJECTIVE: To determine if patients reporting flu-like symptoms (FLS) after botulinum toxin (BoNT) injections are less susceptible to this reaction after incobotulinum toxin.

BACKGROUND: Approximately 10% of patients injected with BoNT in our clinic complain of FLS, primarily malaise, myalgias and rhinorrhea, beginning a few days to one week after injection and lasting one week or less. A review by Baizabal-Carvallo et al. (Toxicon, 2011, 58:1-7) found rates of FLS between 1.7 and 20% in patients after various preparations of botulinum toxin A, and a subsequent study showed increased cytokines in patients with FLS (Neurotoxicity Research, …

International Telemedicine Consultations For Neurodevelopmental Disabilities, Phillip L. Pearl, Craig A. Sable, Sarah Helen Evans, Joseph Knight, Parker Cunningham, Gaetano R. Lotrecchiano, Andrea L. Gropman, Sheela Stuart, Penny J. Glass, Anne Conway, Issam Ramadan, Tania Paiva, Mark L. Batshaw, Roger J. Packer

Neurology Faculty Publications

Background: A telemedicine program was developed between the Children's National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE.

Materials and Methods: Weekly telemedicine consultations are provided by a multidisciplinary faculty. Patients are presented in the UAE with their therapists and families. Real-time (video over Internet protocol; average connection, 768 kilobits/s) telemedicine conferences are held weekly following previews …

Gaps And Opportunities In Refractory Status Epilepticus Research In Children: A Multi-Center Approach By The Pediatric Status Epilepticus Research Group (Pserg), Ivan Sanchez Fernandez, Nicholas S. Abend, Satish Agadi, Sookee An, Ravindra Arya, Jessica L. Carpenter, Kevin E. Chapman, William D. Gaillard, Tracy A. Glauser, David B. Golstein, Joshua L. Goldstein, Howard P. Goodkin, Cecil D. Hahn, Erin L. Heinzen, Mohamad A. Mikati, Katrina Peariso, John P. Pestian, Margie Ream, James J. Riviello, Robert C. Tasker, Korwyn Williams, Tobias Loddenkemper

Neurology Faculty Publications

PURPOSE:

Status epilepticus (SE) is a life-threatening condition that can be refractory to initial treatment. Randomized controlled studies to guide treatment choices, especially beyond first-line drugs, are not available. This report summarizes the evidence that guides the management of refractory convulsive SE (RCSE) in children, defines gaps in our clinical knowledge and describes the development and works of the 'pediatric Status Epilepticus Research Group' (pSERG).

METHODS:

A literature review was performed to evaluate current gaps in the pediatric SE and RCSE literature. In person and online meetings helped to develop and expand the pSERG network.

RESULTS:

The care of pediatric …

Pb Neurotoxicity: Neuropsychological Effects Of Lead Toxicity, Lisa H. Mason, Jordan P. Harp, Dong Y. Han

Neurology Faculty Publications

Neurotoxicity is a term used to describe neurophysiological changes caused by exposure to toxic agents. Such exposure can result in neurocognitive symptoms and/or psychiatric disturbances. Common toxic agents include heavy metals, drugs, organophosphates, bacterial, and animal neurotoxins. Among heavy metal exposures, lead exposure is one of the most common exposures that can lead to significant neuropsychological and functional decline in humans. In this review, neurotoxic lead exposure's pathophysiology, etiology, and epidemiology are explored. In addition, commonly associated neuropsychological difficulties in intelligence, memory, executive functioning, attention, processing speed, language, visuospatial skills, motor skills, and affect/mood are explored.

Acute Cranial Neuropathies Heralding Neurosyphilis In Human Immunodeficiency Virus-Infected Patient., Saeed Alqahtani

Neurology Faculty Publications

No abstract provided.

Thiamine Pyrophosphokinase Deficiency Causes A Leigh Disease Like Phenotype In A Sibling Pair: Identification Through Whole Exome Sequencing And Management Strategies, Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina Zand

Neurology Faculty Publications

We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation …

Cerebral Pressure Passivity In Newborns With Encephalopathy Undergoing Therapeutic Hypothermia, Rathinaswamy B. Govindan, An Nguyen Massaro, Nickie N. Andescavage, Taeun Chang, Adre J. Du Plessis

Neurology Faculty Publications

We extended our recent modification of the power spectral estimation approach to quantify spectral coherence. We tested both the standard and the modified approaches on simulated data, which showed that the modified approach was highly specific and sensitive to the coupling introduced in the simulation while the standard approach lacked these features. We also applied the modified and standard approaches to quantify the pressure passivity in 4 infants receiving therapeutic hypothermia. This was done by measuring the coupling between continuous cerebral hemoglobin differences and mean arterial blood pressure. Our results showed that the modified approach identified a lower pressure passivity …

Lysosomal Abnormalities In Hereditary Spastic Paraplegia Types Spg15 And Spg11, Benoit Renvoise, Jaerak Chang, Rajat Singh, Sayuri Yonekawa, Edmond J. Fitzgibbon, Ami Mankodi, Adeline Vanderver, Alice B. Schindler, Camilo Toro, William A. Gahl, Don J. Mahuran, Craig Blackstone, Tyler Pierson

Neurology Faculty Publications

Objective

Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities. Furthermore, both have been linked to early-onset parkinsonism.

Methods

We describe two new cases of SPG15 and investigate cellular changes in SPG15 and SPG11 patient-derived fibroblasts, seeking to identify shared pathogenic themes. Cells were evaluated for any abnormalities in cell division, DNA repair, endoplasmic reticulum, endosomes, and lysosomes.

Results

Fibroblasts …

Implicit Sequence Learning In People With Parkinson's Disease, Katherine R. Gamble, Thomas J. Cummings, Steven E. Lo, Pritha T. Ghosh, James H. Howard, Darlene V. Howard

Neurology Faculty Publications

Implicit sequence learning involves learning about dependencies in sequences of events without intent to learn or awareness of what has been learned. Sequence learning is related to striatal dopamine levels, striatal activation, and integrity of white matter connections. People with Parkinson’s disease (PD) have degeneration of dopamine-producing neurons, leading to dopamine deficiency and therefore striatal deficits, and they have difficulties with sequencing, including complex language comprehension and postural stability. Most research on implicit sequence learning in PD has used motor-based tasks. However, because PD presents with motor deficits, it is difficult to assess whether learning itself is impaired in these …

Spinocerebellar Ataxia 7: A Report Of Unaffected Siblings Who Married Into Different Sca 7 Families, Fariha Zaheer, Dominic B. Fee

Neurology Faculty Publications

Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation. It is assumed that the affected families share a common ancestor.

Immunopathology Of Cd4+ T Cell-Mediated Autoimmune Responses To Central Nervous System Antigens: Role Of Il-16, Harley Y. Tse, Dusanka S. Skundric, William W. Cruikshank, Paul C. Montgomery, Robert P. Lisak

Neurology Faculty Publications

Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating and degenerative disease of the central nervous system (CNS). While etiology of the disease remains unknown, genetic susceptibility and autoimmune mechanisms in the initiation and progression of the disease have been strongly suggested. Experimental autoimmune encephalomyelitis (EAE) is commonly used to study immune regulation of MS. Infiltration by CD4⁺ T cells, through blood-brain barrier (BBB), precedes the onset and relapses of MS. CNS migration and homing patterns of T cells are tightly synchronized by astrocyte and microglia derived cytokines and chemokines. Autoimmune, CNS antigenreactive, infiltrating T cells produce and locally release …

Analysis Of Lmnb1 Duplications In Autosomal Dominant Leukodystrophy Provides Insights Into Duplication Mechanisms And Allele-Specific Expression, Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Adeline Vanderver, +31 Additional Authors

Neurology Faculty Publications

Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications …

Metabolic Causes Of Epileptic Encephalopathy, Joe Yuezhou Yu, Phillip L. Pearl

Neurology Faculty Publications

Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and generalized epilepsies which in particular include myoclonic seizures. There are varying degrees of treatability, but the outcome if untreated can often be catastrophic. The importance of early recognition cannot be overemphasized. This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. …

Imaging Findings Associated With Cognitive Performance In Primary Lateral Sclerosis And Amyotrophic Lateral Sclerosis, Avner Meoded, Justin Y. Kwan, Tracy L. Peters, Edward D. Huey, Laura E. Danielian, Edythe Wiggs, Arthur Morrissette, Tianxia Wu, James W. Russell, Elham Bayat, Jordan Grafman, Mary Kay Floeter

Neurology Faculty Publications

Introduction: Executive dysfunction occurs in many patients with amyotrophic lateral sclerosis (ALS), but it has not been well studied in primary lateral sclerosis (PLS). The aims of this study were to (1) compare cognitive function in PLS to that in ALS patients, (2) explore the relationship between performance on specific cognitive tests and diffusion tensor imaging (DTI) metrics of white matter tracts and gray matter volumes, and (3) compare DTI metrics in patients with and without cognitive and behavioral changes.

Methods: The Delis-Kaplan Executive Function System (D-KEFS), the Mattis Dementia Rating Scale (DRS-2), and other behavior and mood scales were …

Middle Ear Myoclonus: Two Informative Cases And A Systematic Discussion Of Myogenic Tinnitus, Aviva Ellenstein, Nadia Yusuf, Mark Hallett

Neurology Faculty Publications

Background: The term middle ear myoclonus (MEM) has been invoked to explain symptoms of tinnitus presumably caused by the dysfunctional movement of either of the two muscles that insert in the middle ear: tensor tympani and stapedius. MEM has been characterized through heterogeneous case reports in the otolaryngology literature, where clinical presentation is variable, phenomenology is scarcely described, the pathogenic muscle is usually not specified, natural history is unknown, and the presumptive definitive treatment, tensor tympani or stapedius tendon lysis, is inconsistently effective. It is not surprising that no unique acoustogenic mechanism or pathophysiologic process has been identified to explain …

Hippocampal Neurogenesis And The Brain Repair Response To Brief Stereotaxic Insertion Of A Microneedle, Shijie Song, Shuojing Song, Chuanhai Cao, Xiaoyang Lin, Kunyu Li, Vasyl Sava, Juan Sanchez-Ramos

Neurology Faculty Publications

We tested the hypothesis that transient microinjury to the brain elicits cellular and humoral responses that stimulate hippocampal neurogenesis. Brief stereotaxic insertion and removal of a microneedle into the right hippocampus resulted in (a) significantly increased expression of granulocyte-colony stimulating factor (G-CSF), the chemokine MIP-1a, and the proinflammatory cytokine IL12p40; (b) pronounced activation of microglia and astrocytes; and (c) increase in hippocampal neurogenesis. This study describes immediate and early humoral and cellular mechanisms of the brain’s response to microinjury that will be useful for the investigation of potential neuroprotective and deleterious effects of deep brain stimulation in various neuropsychiatric disorders.

Global Profiling Of Alternative Splicing Events And Gene Expression Regulated By Hnrnph/F, Erming Wang, Vahid Aslanzadeh, Filomena Papa, Haiyan Zhu, Pierre De La Grange, Franca Cambi

Neurology Faculty Publications

In this study, we have investigated the global impact of heterogeneous nuclear Ribonuclear Protein (hnRNP) H/F-mediated regulation of splicing events and gene expression in oligodendrocytes. We have performed a genome-wide transcriptomic analysis at the gene and exon levels in Oli-neu cells treated with siRNA that targets hnRNPH/F compared to untreated cells using Affymetrix Exon Array. Gene expression levels and regulated exons were identified with the GenoSplice EASANA algorithm. Bioinformatics analyses were performed to determine the structural properties of G tracts that correlate with the function of hnRNPH/F as enhancers vs. repressors of exon inclusion. Different types of alternatively spliced events …

Radiation Therapy Quality In Ccg/Pog Intergroup 9961: Implications For Craniospinal Irradiation And The Posterior Fossa Boost In Future Medulloblastoma Trials, Bernadine Donahue, Mary A.H. Marymont, Sandra Kessel, Matthew K. Iandoli, Thomas Fitzgerald, Emiko Holmes, Mehmet Kocak, James M. Boyett, Amar Gajjar, Roger J. Packer

Neurology Faculty Publications

Purpose: Associations of radiation therapy (RT) deviations and outcomes in medulloblastoma have not been defined well, particularly in the era of reduced-dose craniospinal irradiation and chemotherapy. The aim of this study is to evaluate the quality of RT on Children’s Cancer Group/Pediatric Oncology Group 9961 and analyze associations of RT deviations with outcome.

Materials and Methods: Major volume deviations were assessed based on the distance from specified anatomical region to field edge. We investigated associations of RT deviations with progression-free survival (PFS), overall survival (OS), and explored associations with demographics and clinical variables.

Results: Of the 308 patients who were …

Risk Factors Associated With Death In In-Hospital Pediatric Convulsive Status Epilepticus, Tobias Loddenkemper, Tanvir U. Syed, Sriram Ramgopal, Deepak Gulati, Sikawat Thanaviratananich, Sanjeev V. Kothare, Amer Alshekhlee, Mohamad Z. Koubeissi

Neurology Faculty Publications

Objective

To evaluate in-patient mortality and predictors of death associated with convulsive status epilepticus (SE) in a large, multi-center, pediatric cohort.

Patients and Methods

We identified our cohort from the KID Inpatient Database for the years 1997, 2000, 2003 and 2006. We queried the database for convulsive SE, associated diagnoses, and for inpatient death. Univariate logistic testing was used to screen for potential risk factors. These risk factors were then entered into a stepwise backwards conditional multivariable logistic regression procedure. P-values less than 0.05 were taken as significant.

Results

We identified 12,365 (5,541 female) patients with convulsive SE aged …

Iron Accumulation In Deep Cortical Layers Accounts For Mri Signal Abnormalities In Als: Correlating 7 Tesla Mri And Pathology, Justin Y. Kwan, Suh Young Jeong, Peter Van Gelderen, Han-Xiang Deng, Martha M. Quezado, Laura E. Danielian, John Butman, Lingye Chen, Elham Bayat, James Russell, Teepu Siddique, Jeff H. Duyn, Tracey A. Rouault, Mary Kay Floeter

Neurology Faculty Publications

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by cortical and spinal motor neuron dysfunction. Routine magnetic resonance imaging (MRI) studies have previously shown hypointense signal in the motor cortex on T2-weighted images in some ALS patients, however, the cause of this finding is unknown. To investigate the utility of this MR signal change as a marker of cortical motor neuron degeneration, signal abnormalities on 3T and 7T MR images of the brain were compared, and pathology was obtained in two ALS patients to determine the origin of the motor cortex hypointensity. Nineteen patients with clinically probable or …

Receptor Antagonism And Dyskinesia In Parkinson’S Disease, Micaela Morelli, Fabio Blandini, Nicola Simola, Robert A. Hauser

Neurology Faculty Publications

Dyskinesia, a major complication of treatment of Parkinson’s disease (PD), involves two phases: induction, which is responsible for dyskinesia onset, and expression, which underlies its clinical manifestation. The unique cellular and regional distribution of adenosine receptors in basal ganglia areas that are richly innervated by dopamine, and their antagonistic role towards dopamine receptor stimulation, have positioned receptor antagonists as an attractive nondopaminergic target to improve the motor deficits that characterize PD. In this paper, we describe the biochemical characteristics of receptors and the effects of adenosine antagonists in rodent and primate models of PD on L-DOPA-induced dyskinesia, together with relevant …

Elderly Onset Of Weakness In Facioscapulohumeral Muscular Dystrophy, Dominic B. Fee

Neurology Faculty Publications

A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. This case is one of the oldest onset of weakness in genetically confirmed FSH and highlights the recognized expansion in phenotype that has occurred since the advent of genetic testing.

White Matter Diffusion Alterations In Normal Women At Risk Of Alzheimer's Disease, Charles D. Smith, Himachandra Chebrolu, Anders H. Andersen, David A. Powell, Mark A. Lovell, Shuling Xiong, Brian T. Gold

Neurology Faculty Publications

Increased white matter mean diffusivity and decreased fractional anisotropy (FA) has been observed in subjects diagnosed with mild cognitive impairment (MCI) and Alzheimer's disease (AD). We sought to determine whether similar alterations of white matter occur in normal individuals at risk of AD. Diffusion tensor images were acquired in 42 cognitively normal right-handed women with both a family history of dementia and at least one apolipoprotein E4 allele. These were compared with images from 23 normal women without either AD risk factor. Group analyses were performed using tract-based spatial statistics. Reduced FA was observed in the fronto-occipital and inferior temporal …

A Comparative Analysis Of Structural Brain Mri In The Diagnosis Of Alzheimer’S Disease, Jason Appel, Elizabeth Potter, Qian Shen, Gustavo Pantol, Maria T. Greig, David Loewenstein, Ranjan Duara

Neurology Faculty Publications

Dementia is a debilitating and life-altering disease which leads to both memory impairment and decline of normal executive functioning. While causes of dementia are numerous and varied, the leading cause among patients 60 years and older is Alzheimer’s disease. The gold standard for Alzheimer’s diagnosis remains histological identification of amyloid plaques and neurofibrillary tangles within the medial temporal lobe, more specifically the entorhinal cortex and hippocampus. Although no definitive cure for Alzheimer's disease currently exists, there are treatments targeted at preserving cognition and memory while delaying continued loss of function. Alzheimer's disease exists along a spectrum of cognitive decline and …

Isolated Right Temporal Lobe Stroke Patients Present With Geschwind Gastaut Syndrome, Frontal Network Syndrome And Delusional Misidentification Syndromes, Michael Hoffmann

Neurology Faculty Publications

Background: Right temporal lobe lesion syndrome elicitation presents a clinical challenge. Aside from occasional covert quadrantanopias, heralding elementary neurological deficits are absent.Aim: Isolated right and left temporal lobe stroke patients were analyzed for the panoply of known temporal and frontal cognitive and neuropsychiatric syndromes.Methods: Temporal lobe stroke patients were analyzed, derived from a dedicated cognitive stroke registry. Patients were screened by a validated bedside cognitive battery and a neuropsychological test battery, including the Bear Fedio Inventory for diagnosis of the Geschwind Gastaut (GG) syndrome, frontal network syndrome testing (FNS), emotional intelligence testing and delusional misidentification syndromes (DMIS). NIH …

Etiology Of Frontal Network Syndromes In Isolated Subtentorial Stroke, Michael Hoffmann, Lourdes Benes Cases

Neurology Faculty Publications

Background: The neurobiology of the frontal network syndrome (FNS) that may occur with isolated subtentorial stroke is unknown.Aim: Evaluate for frontal network syndromes in young people post subtentorial stroke who have recovered neurologically and compare to a stroke lesion group least likely to manifest frontal network syndromes.Methods: Young people (18–49 years) with isolated cerebellar or brainstem subtentorial stroke (ST) that had recovered to independency (Rankin score ࣘ 2) with minimal or no residual neurological deficit (NIHSS ࣘ 4) with neurological recovery enabling resumption of former employment. Comparison was made to age and education matched young people with posterior …

Foreign Accent Syndrome Mimicked By Garcin Syndrome With Spontaneous Resolution, Michael Hoffmann

Neurology Faculty Publications

An English speaking women developed a French accent, without any aphasic syndromes, in conjunction with multiple left sided cranial nerve deficits, temporally related to cranial trauma. Extensive testing with multimodality magnetic resonance imaging, cerebrospinal fluid and laboratory analysis was unremarkable. She was followed over a 3 year period during which her French accent resolved as did the majority of her multiple unilateral cranial neuropathies. The neurological diagnoses included a foreign accent syndrome attributed to a reversible Garcin syndrome.

Spontaneous Intracranial Arterial Dissection In The Young: Diagnosis By Ct Angiography, William C. Robertson, Curtis A. Given

Neurology Faculty Publications

BACKGROUND: Spontaneous carotid artery dissections have been rarely reported in children. Diagnosis has traditionally been confirmed by catheter arteriography. More recently diagnosis has been made by magnetic resonance imaging and magnetic resonance angiography; however the sensitivity of these techniques has yet to be determined. The authors are unaware of reports of carotid dissection confirmed by dynamic computed tomography (computerized tomographic arteriography) in the young.

CASE PRESENTATION: We recently evaluated a fourteen year-old male following the development of transient neurologic symptoms. There was no antecedent illness or trauma. Dynamic computed tomography revealed an intracranial dissection involving the supraclinoid segment of the …