Neurology Commons^™

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 …

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 …

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 …

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.