scholarly journals Huntington's Disease: Two-Year Observational Follow-Up of Executive Function Evaluation with CNS Vital Signs Test in an Adult Patient

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Anna Lucia Spear King ◽  
Alexandre Martins Valença ◽  
Adriana Cardoso de Oliveira e Silva ◽  
Ana Claudia Cerqueira ◽  
Lígia Maria Chaves Ferraz ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Vital Signs ◽  
Clinical Severity ◽  
Psychomotor Development ◽  
Cognitive State ◽  
Evolutionary Stage ◽  
Medication Therapy

Huntington's disease (HD) is a genetic, degenerative, and progressive central nervous system disease. It is characterized by motor abnormalities and cognitive and psychiatric symptoms.Objective. To describe the precise degree of clinical severity of patients with HD through a new neurocognitive assessment.Methods. Unprecedented battery of computerized tests, CNSVS (Central Nervous System Vital Signs), was applied at three different moments in 2008, 2009, and 2010. The accurate and reliable CNSVS objectively provided the cognitive state of patients and allowed for the evaluation of disease progression.Case Report. P., 26, female, without any medication, with normal psychomotor development is a parent carrier of HD. In 2008, she was diagnosed with HD in accordance with the Medical Genetics Laboratories.Conclusion. The tests may be useful to reveal the exact measure of the current evolutionary stage of HD patients, allowing for more efficient planning of treatment and future procedures, such as the medication, therapy, and physical activity to be administered.

scholarly journals Synthetic lethal screening in the mammalian central nervous system identifies Gpx6 as a modulator of Huntington’s disease

2014 ◽  
Vol 112 (1) ◽  
pp. 268-272 ◽  
Author(s):  
Reut Shema ◽  
Ruth Kulicke ◽  
Glenn S. Cowley ◽  
Rachael Stein ◽  
David E. Root ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mouse Model ◽  
Neurodegenerative Disease ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Model Organisms ◽  
Mutant Huntingtin ◽  
Synthetic Lethal ◽  
Mammalian Central Nervous System

Huntington’s disease, the most common inherited neurodegenerative disease, is characterized by a dramatic loss of deep-layer cortical and striatal neurons, as well as morbidity in midlife. Human genetic studies led to the identification of the causative gene, huntingtin. Recent genomic advances have also led to the identification of hundreds of potential interacting partners for huntingtin protein and many hypotheses as to the molecular mechanisms whereby mutant huntingtin leads to cellular dysfunction and death. However, the multitude of possible interacting partners and cellular pathways affected by mutant huntingtin has complicated efforts to understand the etiology of this disease, and to date no curative therapeutic exists. To address the general problem of identifying the disease-phenotype contributing genes from a large number of correlative studies, here we develop a synthetic lethal screening methodology for the mammalian central nervous system, called SLIC, for synthetic lethal in the central nervous system. Applying SLIC to the study of Huntington’s disease, we identify the age-regulated glutathione peroxidase 6 (Gpx6) gene as a modulator of mutant huntingtin toxicity and show that overexpression of Gpx6 can dramatically alleviate both behavioral and molecular phenotypes associated with a mouse model of Huntington’s disease. SLIC can, in principle, be used in the study of any neurodegenerative disease for which a mouse model exists, promising to reveal modulators of neurodegenerative disease in an unbiased fashion, akin to screens in simpler model organisms.

scholarly journals Emerging Roles of Exosomes in Huntington’s Disease

2021 ◽  
Vol 22 (8) ◽  
pp. 4085
Author(s):  
Hanadi Ananbeh ◽  
Petr Vodicka ◽  
Helena Kupcova Skalnikova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Cell Types ◽  
Neuroprotective Effects ◽  
The Central Nervous System

Huntington’s disease (HD) is a rare hereditary autosomal dominant neurodegenerative disorder, which is caused by expression of mutant huntingtin protein (mHTT) with an abnormal number of glutamine repeats in its N terminus, and characterized by intracellular mHTT aggregates (inclusions) in the brain. Exosomes are small extracellular vesicles that are secreted generally by all cell types and can be isolated from almost all body fluids such as blood, urine, saliva, and cerebrospinal fluid. Exosomes may participate in the spreading of toxic misfolded proteins across the central nervous system in neurodegenerative diseases. In HD, such propagation of mHTT was observed both in vitro and in vivo. On the other hand, exosomes might carry molecules with neuroprotective effects. In addition, due to their capability to cross blood-brain barrier, exosomes hold great potential as sources of biomarkers available from periphery or carriers of therapeutics into the central nervous system. In this review, we discuss the emerging roles of exosomes in HD pathogenesis, diagnosis, and therapy.

scholarly journals Peripheral Htt silencing does not ameliorate central signs of disease in the B6. HttQ111/+ mouse model of Huntington’s Disease

2016 ◽  
Author(s):  
Sydney R. Coffey ◽  
Robert M. Bragg ◽  
Minnig Shawn ◽  
Seth A. Ament ◽  
Glickenhaus Anne ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Transcriptional Dysregulation ◽  
Time Period ◽  
Organ Systems ◽  
Wide Range ◽  
The Central Nervous System ◽  
The Relationship

AbstractHuntington’s disease (HD) is an autosomal dominant neurodegenerative disease whose neuropathological signature is a selective loss of medium spiny neurons in the striatum. Despite this selective neuropathology, the mutant protein (huntingtin) is found in virtually every cell so far studied, and, consequently, phenotypes are observed in a wide range of organ systems both inside and outside the central nervous system. We, and others, have suggested that peripheral dysfunction could contribute to the rate of progression of striatal phenotypes of HD. To test this hypothesis, we lowered levels of huntingtin by treating mice with antisense oligonucleotides (ASOs) targeting the murine Huntingtin gene. To study the relationship between peripheral huntingtin levels and striatal HD phenotypes, we utilized a knock-in model of the human HD mutation (the B6.HttQ111/+ mouse). We treated mice with ASOs from 2-10 months of age, a time period over which significant HD-relevant signs progressively develop in the brains of HttQ111+ mice. Peripheral treatment with ASOs led to persistent reduction of huntingtin protein in peripheral organs, including liver, brown and white adipose tissues. This reduction was not associated with alterations in the severity of HD-relevant signs in the striatum of HttQ111/+ mice at the end of the study, including transcriptional dysregulation, the accumulation of neuronal intranuclear inclusions, and behavioral changes such as subtle hypoactivity and reduced exploratory drive. These results suggest that the amount of peripheral reduction achieved in the current study does not significantly impact the progression of HD-relevant signs in the central nervous system.

scholarly journals Clinical severity of Huntington's disease does not always correlate with neuropathologic stage

2012 ◽  
Vol 27 (9) ◽  
pp. 1099-1103 ◽  
Author(s):  
Jagan A. Pillai ◽  
Lawrence A. Hansen ◽  
Eliezer Masliah ◽  
Jody L. Goldstein ◽  
Steven D. Edland ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Severity

Homocysteine and cognitive disorders of postmenopausal women measured by a battery of computer tests—central nervous system vital signs

2015 ◽  
Vol 18 (4) ◽  
pp. 623-630 ◽  
Author(s):  
Grzegorz Raszewski ◽  
Małgorzata Loroch ◽  
Alfred Owoc ◽  
Krzysztof Łukawski ◽  
Rafał Filip ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Postmenopausal Women ◽  
Vital Signs ◽  
Cognitive Disorders

scholarly journals Interferon β-Mediated Protective Functions of Microglia in Central Nervous System Autoimmunity

2019 ◽  
Vol 20 (1) ◽  
pp. 190 ◽  
Author(s):  
Stefanie Scheu ◽  
Shafaqat Ali ◽  
Ritu Mann-Nüttel ◽  
Lisa Richter ◽  
Volker Arolt ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Mechanisms ◽  
Chronic Inflammatory Disease ◽  
Clinical Severity ◽  
Interferon Β ◽  
Treatment Regimens ◽  
Cns Autoimmunity ◽  
And Function ◽  
The Impact

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) leading to demyelination and axonal damage. It often affects young adults and can lead to neurological disability. Interferon β (IFNβ) preparations represent widely used treatment regimens for patients with relapsing-remitting MS (RRMS) with therapeutic efficacy in reducing disease progression and frequency of acute exacerbations. In mice, IFNβ therapy has been shown to ameliorate experimental autoimmune encephalomyelitis (EAE), an animal model of MS while genetic deletion of IFNβ or its receptor augments clinical severity of disease. However, the complex mechanism of action of IFNβ in CNS autoimmunity has not been fully elucidated. Here, we review our current understanding of the origin, phenotype, and function of microglia and CNS immigrating macrophages in the pathogenesis of MS and EAE. In addition, we highlight the emerging roles of microglia as IFNβ-producing cells and vice versa the impact of IFNβ on microglia in CNS autoimmunity. We finally discuss recent progress in unraveling the underlying molecular mechanisms of IFNβ-mediated effects in EAE.

scholarly journals Modern Physical Rehabilitation Technologies for Children with Perinatal Lesions of the Central Nervous System

2021 ◽  
Vol 20 (4) ◽  
pp. 57-64
Author(s):  
Maya A. Khan ◽  
Maria S. Petrova ◽  
Maria G. Degtyareva ◽  
Natalya A. Mikitchenko ◽  
Olga U. Smotrina ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Physical Rehabilitation ◽  
Medical Rehabilitation ◽  
Psychomotor Development ◽  
Cochrane Library ◽  
Rehabilitation Team ◽  
Perinatal Pathology ◽  
Wide Range ◽  
The Central Nervous System

The subject of this publication is the medical rehabilitation of children with perinatal lesions of the central nervous system. Currently, the main methodological principles of stage-by-stage medical rehabilitation of newborns, mainly children with the consequencesof perinatal damage to the nervous system, have been determined. Special attention should be paid to the issue of minimal use of medicines in children with perinatal pathology, in this regard, an importanttask is the development and scientific justification of new non-drug technologies of medical rehabilitation, especially in childrenunder 1 year. Medical rehabilitation sets itself the following tasks: stimulation of blood circulation in the brain tissues, improvement of muscle toneby affecting the central nervous system and the peripheral nervous system, activation of neuromuscular transmission processes andimprovement of psychomotor development of a child with perinatal pathology of the central nervous system. Medical rehabilitationof children with perinatal lesions of the central nervous system begins at the earliest possible time and is carried out by specialists ofa multidisciplinary rehabilitation team based on an individual medical rehabilitation program. Aim. To study the results of research conducted by Russian and foreign authors on the issues of physical rehabilitation of children withperinatal damage to the central nervous system and to conduct an analysis of the effectiveness of the proposed technologies. Material and methods. The literature review for this article was conducted from the elibrary, PubMed, Cochrane Library databaseswith a search depth of 10 years. The selection of publications was carried out using keywords: non-drug technologies, perinatal damageto the central nervous system; perinatal hypoxic-ischemic encephalopathy, kinesotherapy, neurodevelopmental therapy, massage,thin finger training method, dry immersion, fitball gymnastics, V. Voit therapy; Bobat therapy. Conclusion. Currently, a wide range of non-drug technologies of medical rehabilitation of children with the consequences of perinataldamage to the central nervous system is used such as therapeutic gymnastics, massage, kinesiotherapy with a neuroreflex locomotionaccording to Vojta’s method, Bobath-therapy, massage, etc. The analysis of publications has shown that kinesotherapy and massagein in the complex of rehabilitation measures for children with perinatal lesions allows to increase the effectiveness of rehabilitationmeasures, reduce the severity of motor disorders, and can help reduce the frequency of formation of cerebral palsy.

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