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Huntingtin-Lowering Therapies for Huntington Disease: A Review of the Evidence of Potential Benefits and Risks.

Blair R Leavitt, Holly B Kordasiewicz, Scott A Schobel,

Huntington disease (HD) is caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene, HTT, that results in expression of variant (mutant) huntingtin protein (HTT). Therapeutic strategies that reduce HTT levels are currently being pursued to slow or stop disease progression in people with HD. These approaches are supported ... Read more >>

JAMA Neurol (JAMA neurology)
[2020, :]

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A comparison between the neurocognitive profile of Huntington Disease-Like 2 and Huntington Disease: Exploring the presence of double dissociations.

Aline Ferreira-Correia, David G Anderson, Kate Cockcroft, Amanda Krause,

Huntington Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. HDL2 is the Huntington Disease (HD) phenocopy that has the greatest clinical resemblance to HD. Both are characterized by movement, psychiatric and cognitive dysfunction, which progress to dementia. The present study ... Read more >>

Appl Neuropsychol Adult (Applied neuropsychology. Adult)
[2020, :1-11]

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Pharmacotherapy for tics in adult patients with Tourette syndrome and other tic disorders.

James Badenoch, Andrea E Cavanna,

BACKGROUND:Tourette syndrome (TS) and persistent motor/vocal tic disorders are neurodevelopmental conditions characterised by the chronic presence of motor and/or vocal tics. Patients with TS often present with co-morbid disorders, especially attention-deficit and hyperactivity disorder (which tends to improve after childhood), and obsessive-compulsive disorder (which can persist in adulthood). We set ... Read more >>

Neurol. Sci. (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, :]

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Pediatric APS: State of the Art.

Arzu Soybilgic, Tadej Avcin,

PURPOSE OF REVIEW:The purpose of this report is to review recent research findings on APS in children and neonates. RECENT FINDINGS:European evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children ... Read more >>

Curr Rheumatol Rep (Current rheumatology reports)
[2020, 22(3):9]

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New-onset tic disorder following circumscribed brain injury.

Aaron de Souza,

Adult-onset tics represent either a secondary tic disorder ("tourettism") or a late presentation of childhood tics, which may have been previously unrecognised. Head trauma has been recognised as an infrequent cause of adult-onset tic disorder, which exhibits variable temporal relationship to the inciting injury and response to therapy. We present ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, :]

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Cell fate, metabolic reprogramming and lncRNA of tumor-initiating stem-like cells induced by alcohol.

Keigo Machida,

Alcoholism synergizes the development of the hepatocellular carcinoma (HCC) in patients infected with hepatitis B or C virus (HBV or HCV). Tumor-initiating stem-like cells (TICs) are refractory to therapy and have expression of stemness transcription factors. Leaky-gut-derived endotoxin stimulates TLR4-NANOG pathway that skews asymmetric cell division and that metabolically reprograms ... Read more >>

Chem. Biol. Interact. (Chemico-biological interactions)
[2020, :109055]

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Stem Cells: A Review Encompassing the Literature with a Special Focus on the Side-Lined Miraculous Panacea; Pre-Morula Stem Cells.

Aryendu Saini, Rakesh Saini, Himanshu Bansode, Anurag Singh, Lalita Singh,

Stem cells are the undifferentiated cells in the body that possess the ability to differentiate and give rise to any type of cell in the body. In recent years, there has been a growing interest in therapy involving the stem cells as different treatment methods got developed. Depending on the ... Read more >>

Curr Stem Cell Res Ther (Current stem cell research & therapy)
[2020, :]

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Examining aggregates through the eyes of WDFY3/Alfy.

Leora Fox, Ai Yamamoto,

The role protein aggregates play in the pathogenesis of neurodegenerative diseases has been a question since their initial observation. In this autophagic punctum, we discuss our recent findings of how the selectivity scaffold/adaptor WDFY3/Alfy is required for the turnover of aggregated mutant HTT (huntingtin; mHTT) in the adult brain, and ... Read more >>

Autophagy (Autophagy)
[2020, :1-2]

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Identification of Subtle Verbal Memory Deficits in Premanifest Huntington Disease Using the California Verbal Learning Test.

Heather M Holden, Savanna M Tierney, Lisa V Graves, Ilex Beltran-Najera, Steven Paul Woods, Chase M Snell, Dean C Delis, Jody Corey-Bloom, Paul E Gilbert,

BACKGROUND:Verbal memory impairment in individuals with Huntington disease (HD) is well-documented; however, the nature and extent of verbal memory impairment in individuals with premanifest HD (pre-HD) are less understood. OBJECTIVE:To evaluate verbal memory function in individuals with pre-HD by comparing their performance on the California Verbal Learning Test to that ... Read more >>

Cogn Behav Neurol (Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology)
[2020, 33(1):16-22]

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Measuring Character Strengths as Possible Protective Factors against Suicidal Ideation in Older Chinese Adults: A Cross-Sectional Study

Wenjie Duan, Xinfeng Cheng, He Bu, Along He, Yaping Zhang,

<title>Abstract</title> <p> Background: Suicide is a global issue among the elderly. The number of older people committing suicide is proliferating, and the elderly suicide rate is the highest among all age groups in China. The possible protective factors against suicidal ideation should be investigated for prevention and intervention ... Read more >>

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Contrast-Enhanced Ultrasound Findings and Differential Diagnosis of Hepatic Epithelioid Angiomyolipoma Compared With Hepatocellular Carcinoma.

Zhe Huang, XiaoBei Wu, ShanShan Li, Kaiyan Li,

Hepatic epithelioid angiomyolipoma (EAML) has malignant potential that can easily be misdiagnosed as hepatocellular carcinoma (HCC), but the treatment options of these conditions are different. This retrospective study investigated whether contrast-enhanced ultrasound (CEUS) can differentiate EAML from HCC. We included 24 patients with pathologically confirmed EAML and 36 patients with ... Read more >>

Ultrasound Med Biol (Ultrasound in medicine & biology)
[2020, :]

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Piperine mitigates behavioral impairments and provides neuroprotection against 3-nitropropinoic acid-induced Huntington disease-like symptoms.

Mohd Salman, Heena Tabassum, Suhel Parvez,

Background: Piperine (PIP) is a powerful anti-oxidant and anti-inflammatory alkaloid which has been widely used in the treatment of various pathological conditions. However, few studies have clearly discussed the protective effects and potential mechanism of PIP in different neurological diseases. The aim of this study was to investigate the neuroprotective ... Read more >>

Nutr Neurosci (Nutritional neuroscience)
[2020, :1-10]

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Clinical Features That Evoke the Concept of Disinhibition in Tourette Syndrome.

Lille Kurvits, Davide Martino, Christos Ganos,

The capacity to efficiently control motor output, by either refraining from prepotent actions or disengaging from ongoing motor behaviors, is necessary for our ability to thrive in a stimulus-rich and socially complex environment. Failure to engage in successful inhibitory motor control could lead to aberrant behaviors typified by an excess ... Read more >>

Front Psychiatry (Frontiers in Psychiatry)
[2020, 11:21]

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Patient-reported impact of symptoms in Huntington disease: PRISM-HD.

Alistair M Glidden, Elizabeth A Luebbe, Molly J Elson, Steven B Goldenthal, Christopher W Snyder, Christine E Zizzi, E Ray Dorsey, Chad R Heatwole,

OBJECTIVE:To determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden. METHODS:We performed 40 qualitative interviews (n = 20 with HD, n = 20 caregivers) and analyzed 2,082 quotes regarding the symptomatic burden of HD. ... Read more >>

Neurology (Neurology)
[2020, :]

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Peroxisomal Dysfunction in Neurological Diseases and Brain Aging.

Ndidi-Ese Uzor, Louise D McCullough, Andrey S Tsvetkov,

Peroxisomes exist in most cells, where they participate in lipid metabolism, as well as scavenging the reactive oxygen species (ROS) that are produced as by-products of their metabolic functions. In certain tissues such as the liver and kidneys, peroxisomes have more specific roles, such as bile acid synthesis in the ... Read more >>

Front Cell Neurosci (Frontiers in Cellular Neuroscience)
[2020, 14:44]

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Phenotypic Variability in Huntington's Disease.

Anjali Chouksey, Sanjay Pandey,

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(2):153-154]

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Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection-Characteristics and Diagnostic Criteria of PANDAS Recognition.

Jacek Baj, Elżbieta Sitarz, Alicja Forma, Katarzyna Wróblewska, Hanna Karakuła-Juchnowicz,

The objective of this paper is to review and summarize conclusions from the available literature regarding Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). The authors have independently reviewed articles from 1977 onwards, primarily focusing on the etiopathology, symptoms, differentiation between similar psychiatric conditions, immunological reactions, alterations in the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Chorea as the First Manifestation of Cerebral Infarction.

Otto Jesus Hernandez Fustes, Renato Puppi Munhoz, Carlos Arteaga Rodriguez, Olga Judith Hernandez Fustes,

Cerebrovascular disease (CVD), which usually manifests as a focal neurological deficit, is presented here as a movement disorder. This unusual manifestation corresponds to 1% of the CVDs and 8% of the striatal lesions. We report a 37-year-old right-handed woman who developed choreic movements as the first manifestation of an acute stroke. ... Read more >>

Cureus (Cureus)
[2020, 12(3):]

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Association Between Neurological Disorders and Death by Suicide in Denmark.

Annette Erlangsen, Egon Stenager, Yeates Conwell, Per Kragh Andersen, Keith Hawton, Michael Eriksen Benros, Merete Nordentoft, Elsebeth Stenager,

Importance:Neurological disorders have been linked to suicide, but the risk across a broad spectrum of neurological disorders remains to be assessed. Objectives:To examine whether people with neurological disorders die by suicide more often than other people and to assess for temporal associations. Design, Setting, and Participants:Nationwide, retrospective cohort study on ... Read more >>

JAMA (JAMA)
[2020, 323(5):444-454]

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Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

Rui Gu, Guangyong Ye, Yimin Zhou, Zhou Jiang,

RATIONALE:Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. PATIENT CONCERNS:Recurrent hypoxemia was observed shortly ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(12):e19650]

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Generalized chorea associated with subcortical leukoaraiosis of Binswanger type: a case report.

Adrian I Espiritu, Gerard Raimon M Saranza, Veeda Michelle M Anlacan, Cezar Thomas R Suratos, Roland Dominic G Jamora,

Binswanger disease (BD) involves injuries to the brain small vessels, resulting to gradually progressive subcortical ischemia. This disorder manifests with dementia, gait abnormalities, upper motor signs and parkinsonism, and presents as extensive, confluent, bilateral cerebral white matter hyperintensities in the MRI. Cases of BD typically manifests with vascular risk factors, ... Read more >>

Neurodegener Dis Manag (Neurodegenerative disease management)
[2020, 10(1):9-13]

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Tourette's disorder in children and adolescents.

Donald E Greydanus, Julia Tullio,

Tourette's disorder (TD) is one of the five American Psychiatric Association's 2013 Diagnostic and Statistical Manual of Mental Disorders (DSM-5) classifications of tic disorders. Eponymously linked with the noted 19th century French physician, Gilles de la Tourette [1857-1904], this disorder is identified in 0.3% to 0.7% of the population. It ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(Suppl 1):S94-S103]

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Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review.

Helga Haberfehlner, Marije Goudriaan, Laura A Bonouvrié, Elise P Jansma, Jaap Harlaar, R Jeroen Vermeulen, Marjolein M van der Krogt, Annemieke I Buizer,

BACKGROUND:In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim to classify these instrumented measurements using the categories of the international classification of functioning, disability and health for ... Read more >>

J Neuroeng Rehabil (Journal of neuroengineering and rehabilitation)
[2020, 17(1):39]

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The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

Jianjun Wu, Fang Peng, Yue Zhang, Xin-Yue Zhou, Shuai-Qi Huang, Chen Chen, Zheng-Tong Ding, Jian Wang, Yi-Min Sun,

<title>Abstract</title> <p> Background Spinocerebellar ataxias (SCAs) are the autosomal dominant cerebellar ataxia (ADCA) with great clinical and genetic heterogeneity. Genetic testing will contribute to the final diagnosis. Methods A total of 204 Chinese ADCA patients were recruited and 190 had genetic testing. Dynamic mutations of SCA1, 2, 3, ... Read more >>

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Sex and psychiatric comorbidity correlates of the premonitory urge for tic scale in youth with persistent tic disorders.

K R Edwards, J M Raines, J B Winnick, M F Sherman, C I Higginson, K Navin, F Conteh, E J Ricketts, M W Specht,

The premonitory urge for tics scale (PUTS) is a common self-report measure of premonitory sensations preceding tics. The present study aimed to examine the internal consistency and concurrent validity of the PUTS by sex and psychiatric comorbidity status; and explored interactions between sex and psychiatric comorbidity in predicting premonitory urge ... Read more >>

J Neural Transm (Vienna) (Journal of neural transmission (Vienna, Austria : 1996))
[2020, :]

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