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Journal of Central Nervous System Disease

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https://www.readbyqxmd.com/read/27594793/evidence-based-assessment-of-obsessive-compulsive-disorder
#1
REVIEW
Amy M Rapp, R Lindsay Bergman, John Piacentini, Joseph F McGuire
Obsessive-compulsive disorder (OCD) is a neuropsychiatric illness that often develops in childhood, affects 1%-2% of the population, and causes significant impairment across the lifespan. The first step in identifying and treating OCD is a thorough evidence-based assessment. This paper reviews the administration pragmatics, psychometric properties, and limitations of commonly used assessment measures for adults and youths with OCD. This includes diagnostic interviews, clinician-administered symptom severity scales, self-report measures, and parent/child measures...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/27375363/molecular-mechanism-of-adult-neurogenesis-and-its-association-with-human-brain-diseases
#2
REVIEW
He Liu, Ni Song
Recent advances in neuroscience challenge the old dogma that neurogenesis occurs only during embryonic development. Mounting evidence suggests that functional neurogenesis occurs throughout adulthood. This review article discusses molecular factors that affect adult neurogenesis, including morphogens, growth factors, neurotransmitters, transcription factors, and epigenetic factors. Furthermore, we summarize and compare current evidence of associations between adult neurogenesis and human brain diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and brain tumors...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/27127413/benign-sphenoid-wing-meningioma-presenting-with-an-acute-intracerebral-hemorrhage-a-case-report
#3
Radek Frič, John K Hald, Ellen-Ann Antal
BACKGROUND AND STUDY OBJECT: We report an unusual case of a benign lateral sphenoid wing meningioma that presented with, and was masked by, an acute intracerebral hemorrhage. CASE REPORT: A 68-year-old woman was admitted after sudden onset of coma. Computed tomography (CT) revealed an intracerebral hemorrhage, without any underlying vascular pathology on CT angiography. During the surgery, we found a lateral sphenoid wing meningioma with intratumoral bleeding that extended into the surrounding brain parenchyma...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/26106267/bioinformatics-data-mining-approach-suggests-coexpression-of-agtpbp1-with-an-als-linked-gene-c9orf72
#4
Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh
BACKGROUND: Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Formation of nuclear RNA foci, accumulation of repeat-associated non-ATG-translated dipeptide-repeat proteins, and haploinsufficiency of C9orf72 are proposed for pathological mechanisms of C9ALS/FTD. However, at present, the physiological function of C9orf72 remains largely unknown...
2015: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/26023283/a-comprehensive-profile-of-chip-seq-based-olig2-target-genes-in-motor-neuron-progenitor-cells-suggests-the-possible-involvement-of-olig2-in-the-pathogenesis-of-amyotrophic-lateral-sclerosis
#5
Jun-Ichi Satoh, Naohiro Asahina, Shouta Kitano, Yoshihiro Kino
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an intractable neurodegenerative disease that primarily affects motor neurons in the cerebral cortex and the spinal cord. Recent evidence indicates that dysfunction of oligodendrocytes is implicated in the pathogenesis of ALS. The basic helix-loop-helix (bHLH) transcription factor Olig2 plays a pivotal role in the development of both motor neurons and oligodendrocytes in the progenitor of motor neuron (pMN) domain of the spinal cord, supporting evidence for the shared motor neuron/oligodendrocyte lineage...
2015: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24453523/aromatic-amino-acid-decarboxylase-deficiency-not-responding-to-pyridoxine-and-bromocriptine-therapy-case-report-and-review-of-response-to-treatment
#6
Majid Alfadhel, Rana Kattan
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweating, hypersalivation, autonomic dysfunction, and progressive encephalopathy with severe developmental delay. We report the case of an 8-month-old boy who presented with the abovementioned symptoms and who was diagnosed with AADC deficiency based on clinical, biochemical, and molecular investigations...
January 7, 2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25336998/administration-of-an-amino-acid-based-regimen-for-the-management-of-autonomic-nervous-system-dysfunction-related-to-combat-induced-illness
#7
William E Shell, Marcus Charuvastra, Mira Breitstein, Stephanie L Pavlik, Anthony Charuvastra, Lawrence May, David S Silver
The etiology and pathophysiology of posttraumatic stress disorder (PTSD) remains poorly understood. The nutritional deficiencies associated with the altered metabolic processes of PTSD have not previously been studied in detail. This pilot study measured the reduction in symptoms in 21 military veterans reporting moderate to severe symptoms associated with PTSD. Two amino acid-based medical foods specifically formulated with biogenic amines and other nutrients were administered to study subjects targeting specific neurotransmitter deficiencies resulting from altered metabolic activity associated with PTSD...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25336997/idiopathic-ventral-spinal-cord-herniation-an-increasingly-recognized-cause-of-thoracic-myelopathy
#8
Jon Berg-Johnsen, Eivind Ilstad, Frode Kolstad, Mark Züchner, Jarle Sundseth
Idiopathic spinal cord herniation (ISCH), where a segment of the spinal cord has herniated through a ventral defect in the dura, is a rarely encountered cause of thoracic myelopathy. The purpose of our study was to increase the clinical awareness of this condition by presenting our experience with seven consecutive cases treated in our department since 2005. All the patients developed pronounced spastic paraparesis or Brown-Séquard syndrome for several years (mean, 4.7 years) prior to diagnosis. MRI was consistent with a transdural spinal cord herniation in the mid-thoracic region in all the cases...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25249767/increased-epidermal-growth-factor-receptor-egfr-associated-with-hepatocyte-growth-factor-hgf-and-symptom-severity-in-children-with-autism-spectrum-disorders-asds
#9
Anthony J Russo
BACKGROUND: One in 88 children in the US is thought to have one of the autism spectrum disorders (ASDs). ASDs are characterized by social impairments and communication problems. Growth factors and their receptors may play a role in the etiology of ASDs. Research has shown that epidermal growth factor receptor (EGFR) activation is associated with nerve cell development and repair. This study was designed to measure plasma levels of EGFR in autistic children and correlate these levels with its ligand, epidermal growth factor, other related putative biomarkers such as hepatocyte growth factor (HGF), the ligand for MET (MNNG HOS transforming gene) receptor, as well as the symptom severity of 19 different behavioral symptoms...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25210488/molecular-network-analysis-suggests-a-logical-hypothesis-for-the-pathological-role-of-c9orf72-in-amyotrophic-lateral-sclerosis-frontotemporal-dementia
#10
Jun-Ichi Satoh, Yoji Yamamoto, Shouta Kitano, Mika Takitani, Naohiro Asahina, Yoshihiro Kino
BACKGROUND: Expanded GGGGCC hexanucleotide repeats, ranging from hundreds to thousands in number, located in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (abbreviated as C9ALS). Currently, three pathological mechanisms, such as haplo insufficiency of C9orf72, formation of nuclear RNA foci composed of sense and antisense repeats, and accumulation of unconventionally transcribed dipeptide-repeat (DPR) proteins, are proposed for C9ALS...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25089094/vanishing-white-matter-disease-in-a-spanish-population
#11
REVIEW
Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada Del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O'Callaghan, Jordi Muchart, Judith Armstrong-Moron
Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24932109/neuronal-and-glia-related-biomarkers-in-cerebrospinal-fluid-of-patients-with-acute-ischemic-stroke
#12
Clara Hjalmarsson, Maria Bjerke, Björn Andersson, Kaj Blennow, Henrik Zetterberg, N David Aberg, Bob Olsson, Carl Eckerström, Lena Bokemark, Anders Wallin
BACKGROUND: Cerebral ischemia promotes morphological reactions of the neurons, astrocytes, oligodendrocytes, and microglia in experimental studies. Our aim was to examine the profile of CSF (cerebrospinal fluid) biomarkers and their relation to stroke severity and degree of white matter lesions (WML). METHODS: A total of 20 patients (mean age 76 years) were included within 5-10 days after acute ischemic stroke (AIS) onset. Stroke severity was assessed using NIHSS (National Institute of Health stroke scale)...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24855407/efficacy-and-side-effects-of-natalizumab-therapy-in-patients-with-multiple-sclerosis
#13
REVIEW
Robert Hoepner, Simon Faissner, Anke Salmen, Ralf Gold, Andrew Chan
Natalizumab (Nat) is a humanized monoclonal antibody used for the treatment of relapsing multiple sclerosis (MS). Nat inhibits lymphocyte migration via the blood brain barrier (BBB) by blockage of an integrin adhesion molecule, very late antigen 4. During the phase III clinical trials, it was shown that Nat reduces disease activity and prevents disability progression. In addition, several smaller studies indicate a positive influence of Nat on cognition, depression, fatigue, and quality of life (Qol). Therapeutic efficacy has to be weighed against the risk of developing potentially fatal progressive multifocal leukoencephalopathy (PML), an opportunistic infection by JC-virus (JCV) with an incidence of 3...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24812533/medical-treatment-of-essential-tremor
#14
REVIEW
Ali H Rajput, Alex Rajput
Essential tremor (ET) is the most common pathological tremor characterized by upper limb action-postural tremor (PT)/kinetic tremor (KT). There are no specific neuropathological or biochemical abnormalities in ET. The disability is consequent to amplitude of KT, which may remain mild without handicap or may become disabling. The most effective drugs for sustained tremor control are propranolol and primidone. Symptomatic drug treatment must be individualized depending on the circumstances that provoke the tremor-related disability...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24737935/temporal-and-location-specific-alterations-of-the-gaba-recycling-system-in-mecp2-ko-mouse-brains
#15
Seok K Kang, Shin Tae Kim, Michael V Johnston, Shilpa D Kadam
Rett syndrome (RTT), associated with mutations in methyl-CpG-binding protein 2 (Mecp2), is linked to diverse neurological symptoms such as seizures, motor disabilities, and cognitive impairments. An altered GABAergic system has been proposed as one of many underlying pathologies of progressive neurodegeneration in several RTT studies. This study for the first time investigated the temporal- and location-specific alterations in the expression of γ-amino butyric acid (GABA) transporter 1 (GAT-1), vesicular GABA transporter (vGAT), and glutamic acid decarboxylase 67kD (GAD67) in wild type (WT) and knockout (KO) mice in the Mecp2(tm1...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24526842/spontaneous-spinal-epidural-hematoma-as-a-potentially-important-stroke-mimic
#16
REVIEW
Tetsu Akimoto, Takeshi Yamada, Soji Shinoda, Yasushi Asano, Daisuke Nagata
Hemiparesis develops in response to a wide range of neurological disorders, such as stroke, neoplasms and several inflammatory processes. Occasionally, it may also occur due to a lesion located in the high cervical spinal cord. In this concise review, we describe the features of spontaneous spinal epidural hematoma, which should be included in the large list of stroke mimics. Various concerns regarding the diagnostic and therapeutic conundrums relating to the condition are also discussed.
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24526841/manual-versus-automated-rodent-behavioral-assessment-comparing-efficacy-and-ease-of-bederson-and-garcia-neurological-deficit-scores-to-an-open-field-video-tracking-system
#17
Fiona A Desland, Aqeela Afzal, Zuha Warraich, J Mocco
Animal models of stroke have been crucial in advancing our understanding of the pathophysiology of cerebral ischemia. Currently, the standards for determining neurological deficit in rodents are the Bederson and Garcia scales, manual assessments scoring animals based on parameters ranked on a narrow scale of severity. Automated open field analysis of a live-video tracking system that analyzes animal behavior may provide a more sensitive test. Results obtained from the manual Bederson and Garcia scales did not show significant differences between pre- and post-stroke animals in a small cohort...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24385718/pharmacotherapy-of-essential-tremor
#18
REVIEW
Peter Hedera, František Cibulčík, Thomas L Davis
Essential tremor (ET) is a common movement disorder but its pathogenesis remains poorly understood. This has limited the development of effective pharmacotherapy. The current therapeutic armamentaria for ET represent the product of careful clinical observation rather than targeted molecular modeling. Here we review their pharmacokinetics, metabolism, dosing, and adverse effect profiles and propose a treatment algorithm. We also discuss the concept of medically refractory tremor, as therapeutic trials should be limited unless invasive therapy is contraindicated or not desired by patients...
2013: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24250245/efficacy-of-retigabine-in-adjunctive-treatment-of-partial-onset-seizures-in-adults
#19
REVIEW
Michele Y Splinter
OBJECTIVE: To evaluate efficacy and tolerability of retigabine (ezogabine, US adopted name) in the adjunctive treatment of partial-onset seizures in adults. Retigabine is the first anticonvulsant in its class, decreasing neuronal excitability by opening voltage-gated potassium channels. METHODS: MEDLINE and EMBASE were systematically searched using search terms retigabine and ezogabine for randomized controlled trials published from 1980 through August 17, 2013...
2013: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/23926443/multi-voxel-1h-mrs-in-metachromatic-leukodystrophy
#20
Mitra Assadi, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone
Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD. The data revealed elevated myoinositol/creatine and lactate/creatine ratios as well as decreased N-acetyl aspartate/creatine ratios. We propose that elevation in myoinositol and lactate are caused by astrocytic gliosis and may be used as biomarkers for disease progression in MLD...
2013: Journal of Central Nervous System Disease
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