keyword
https://read.qxmd.com/read/38567236/huntington-s-disease-a-report-of-an-interesting-case-and-literature-review
#1
Praveen K Sharma, Arun Aram, Yashaswinii Polaka, Vinoth Pandian
Huntington's disease (HD), referred to as Huntington's chorea, is an infrequent neurodegenerative ailment with an autosomal-dominant inheritance pattern characterized by the progressive deterioration of GABAergic neurons in the basal ganglia. Other ones include subcortical-type dementia, behavioral abnormalities, midlife psychosis, and gradual inadvertent choreoathetosis movements. HD is characterized by atrophy of the dorsal striatum (caudate nucleus and putamen) with concurrent expansion of the frontal horns of the lateral ventricles on imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI)...
March 2024: Curēus
https://read.qxmd.com/read/38552722/hippocampal-pyk2-regulates-specific-social-skills-implications-for-schizophrenia
#2
JOURNAL ARTICLE
Laura López-Molina, Anna Sancho-Balsells, Omar Al-Massadi, Enrica Montalban, Jordi Alberch, Belén Arranz, Jean-Antoine Girault, Albert Giralt
Pyk2 has been shown previously to be involved in several psychological and cognitive alterations related to stress, Huntington's disease, and Alzheimer's disease. All these disorders are accompanied by different types of impairments in sociability, which has recently been linked to improper mitochondrial function. We hypothesize that Pyk2, which regulates mitochondria, could be associated with the regulation of mitochondrial dynamics and social skills. In the present manuscript, we report that a reduction of Pyk2 levels in mouse pyramidal neurons of the hippocampus decreased social dominance and aggressivity...
March 27, 2024: Neurobiology of Disease
https://read.qxmd.com/read/37795458/a-case-of-schizophrenia-refuting-mind-body-dualism
#3
Mohlalefi C Letuka, Tejil Morar
INTRODUCTION: The case report depicts the complex interplay between mental and physical illness and contests the notion of mind-body dualism in medicine. It emphasises the importance of holistic management of patients and the misnomer of schizophrenia as a purely mental illness. PATIENT PRESENTATION: Mr S is a 35-year-old male who presented to a South African specialist psychiatric hospital via the forensic system. He had multiple physical symptoms involving the abdominal, haematological, dermatological and neurological systems, in addition to an eight year duration of untreated psychosis with a marked decline in cognition and functioning...
2023: South African Journal of Psychiatry: SAJP
https://read.qxmd.com/read/37720123/an-unusual-presentation-of-serotonin-syndrome-and-subsequent-catatonia-in-a-patient-with-a-family-history-of-huntington-s-disease
#4
Adela G Buciuc, Paula Traugott, Carlos R Danger
Neuroleptic malignant syndrome (NMS) and serotonin syndrome (SS) represent serious life-threatening conditions that share phenotypic and pathophysiologic features due to intricate interactions between the dopaminergic and serotoninergic systems. Malignant catatonia's underlying pathophysiological mechanisms are poorly understood, but it is clinically difficult to distinguish it from NMS. Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by CAG expansion in exon 1 of the huntingtin (HTT) gene...
September 2023: Curēus
https://read.qxmd.com/read/37428709/the-role-of-the-atp-binding-cassette-a1-abca1-in-neurological-disorders-a-mechanistic-review
#5
REVIEW
Tahere Paseban, Mohaddeseh Sadat Alavi, Leila Etemad, Ali Roohbakhsh
INTRODUCTION: Cholesterol homeostasis is critical for normal brain function. It is tightly controlled by various biological elements. ATP-binding cassette transporter A1 (ABCA1) is a membrane transporter that effluxes cholesterol from cells, particularly astrocytes, into the extracellular space. The recent studies pertaining to ABCA1's role in CNS disorders were included in this study. AREAS COVERED: In this comprehensive literature review, preclinical and human studies showed that ABCA1 has a significant role in the following diseases or disorders: Alzheimer's disease, Parkinson's disease, Huntington's disease, multiple sclerosis, neuropathy, anxiety, depression, psychosis, epilepsy, stroke, and brain ischemia and trauma...
July 10, 2023: Expert Opinion on Therapeutic Targets
https://read.qxmd.com/read/37398396/novel-compound-inhibits-glycolysis-proteotoxicity-inflammation-and-impairments-in-animal-models-of-alzheimer-s-huntington-s-and-stroke-aging-as-a-consequence-of-glycolysis
#6
Rachel Litke, Kun-Hyung Roh, Yonejung Yoon, Sindhu Vangeti, Irene Ramos-Lopez, Husnu Kaniskan, Jian Jin, Christopher Kellner, Charles Mobbs
Alzheimer's Disease (AD) and other age-related diseases are increasingly among the most devastating strains on public health systems as the population ages, yet few treatments produce clinically significant protection. Although it is widely agreed that proteotoxicity drives impairments in AD and other neurological diseases, many preclinical and case-report studies indicate that increased microglial production of pro-inflammatory cytokines such as TNF-a mediate proteotoxicity in AD and other neurological conditions...
June 13, 2023: bioRxiv
https://read.qxmd.com/read/37312194/the-therapeutic-potential-of-purified-cannabidiol
#7
REVIEW
Saoirse Elizabeth O'Sullivan, Sanne Skov Jensen, Gitte Nykjaer Nikolajsen, Heidi Ziegler Bruun, Rhenu Bhuller, Julia Hoeng
The use of cannabidiol (CBD) for therapeutic purposes is receiving considerable attention, with speculation that CBD can be useful in a wide range of conditions. Only one product, a purified form of plant-derived CBD in solution (Epidiolex), is approved for the treatment of seizures in patients with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Appraisal of the therapeutic evidence base for CBD is complicated by the fact that CBD products sometimes have additional phytochemicals (like tetrahydrocannabinol (THC)) present, which can make the identification of the active pharmaceutical ingredient (API) in positive studies difficult...
June 13, 2023: Journal of cannabis research
https://read.qxmd.com/read/37210099/safety-and-efficacy-of-valbenazine-for-the-treatment-of-chorea-associated-with-huntington-s-disease-kinect-hd-a-phase-3-randomised-double-blind-placebo-controlled-trial
#8
RANDOMIZED CONTROLLED TRIAL
Erin Furr Stimming, Daniel O Claassen, Elise Kayson, Jody Goldstein, Raja Mehanna, Hui Zhang, Grace S Liang, Dietrich Haubenberger
BACKGROUND: Valbenazine is a highly selective vesicular monoamine transporter 2 (VMAT2) inhibitor approved for treatment of tardive dyskinesia. To address the ongoing need for improved symptomatic treatments for individuals with Huntington's disease, valbenazine was evaluated for the treatment of chorea associated with Huntington's disease. METHODS: KINECT-HD (NCT04102579) was a phase 3, randomised, double-blind, placebo-controlled trial, performed in 46 Huntington Study Group sites in the USA and Canada...
June 2023: Lancet Neurology
https://read.qxmd.com/read/36983567/pharmacogenetics-in-the-treatment-of-huntington-s-disease-review-and-future-perspectives
#9
REVIEW
Xandra García-González, Esther Cubo, Lucía Simón-Vicente, Natividad Mariscal, Raquel Alcaraz, Laura Aguado, Jéssica Rivadeneyra-Posadas, Antonio Sanz-Solas, Miriam Saiz-Rodríguez
Huntington's disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare disease is characterized by cognitive, motor, and neuropsychiatric manifestations. The aim of the treatment is symptomatic and addresses the hyperkinetic disorders (chorea, dystonia, myoclonus, tics, etc.) and the behavioural and cognitive disturbances (depression, anxiety, psychosis, etc.) associated with the disease...
February 22, 2023: Journal of Personalized Medicine
https://read.qxmd.com/read/36902788/non-invasive-neuromodulation-methods-to-alleviate-symptoms-of-huntington-s-disease-a-systematic-review-of-the-literature
#10
REVIEW
Lijin Jose, Lais Bhering Martins, Thiago M Cordeiro, Keya Lee, Alexandre Paim Diaz, Hyochol Ahn, Antonio L Teixeira
Huntington's disease (HD) is a progressive and debilitating neurodegenerative disease. There is growing evidence for non-invasive neuromodulation tools as therapeutic strategies in neurodegenerative diseases. This systematic review aims to investigate the effectiveness of noninvasive neuromodulation in HD-associated motor, cognitive, and behavioral symptoms. A comprehensive literature search was conducted in Ovid MEDLINE, Cochrane Central Register of Clinical Trials, Embase, and PsycINFO from inception to 13 July 2021...
March 2, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/36840533/unintended-impacts-of-a-national-antipsychotic-reduction-initiative-among-nursing-facility-residents-with-and-without-alzheimer-s-disease
#11
JOURNAL ARTICLE
Linda Wastila, Danya M Qato, Sean Fleming, Abree Johnson, Becky Briesacher, Patrick F McArdle, Sarah Holmes, Judith A Lucas, Abhilash Desai, Nicole Brandt, Barbara Zarowitz
BACKGROUND: In July 2012, the Centers for Medicare & Medicaid services launched an antipsychotic reduction initiative (ARI) to improve care for nursing facility residents with Alzheimer's disease and related dementias (ADRD). We examined the impact of this policy on antipsychotic and psychotropic medication (PM) utilization and diagnosis patterns in long-stay nursing facility residents with ADRD and other conditions in which antipsychotics are indicated. METHODS: Using an 80% sample of fee-for-service Medicare beneficiaries with Part D, we conducted a retrospective cohort study of nursing facility residents with ADRD, bipolar disorder, psychosis, Parkinson's disease, and residents exempt from the policy due to diagnoses of schizophrenia, Tourette syndrome, and/or Huntington's disease...
February 25, 2023: Journal of the American Geriatrics Society
https://read.qxmd.com/read/36778641/case-report-clinical-lycanthropy-in-huntington-s-disease
#12
Nick Medford, Natasha Sigala
We describe the case of a patient diagnosed with Huntington's disease (HD), who, following a two-year history of anxiety with obsessional preoccupations, developed psychosis with clinical lycanthropy: a prominent delusional idea that he was a werewolf. Although there was no benefit from various antidepressants and antipsychotics, there was remarkable improvement of his symptoms following prescription of Clozapine. His choreiform movement disorder also improved as his mental state settled. Although some reported cases of clinical lycanthropy are related to neurological conditions, this is the first case in a patient with HD...
2023: Frontiers in Psychiatry
https://read.qxmd.com/read/36496108/neuropharmacological-effect-of-risperidone-from-chemistry-to-medicine
#13
REVIEW
Asif Ahmed Bhat, Gaurav Gupta, Obaid Afzal, Imran Kazmi, Fahad A Al-Abbasi, Abdulmalik Saleh Alfawaz Altamimi, Waleed Hassan Almalki, Sami I Alzarea, Sachin Kumar Singh, Kamal Dua
As the second-oldest atypical antipsychotic, risperidone has a long history of off-label usage for treating behavioural and psychological signs and symptoms of dementia (BPSD), such as agitation, aggressiveness, and psychosis. Risperidone has been shown in several trials to have a statistically significant benefit when used in a therapeutic context. Several lines of evidence suggest a possible role of risperidone via the antagonistic effect of Dopamine D2 and 5HT-receptor in different neurological diseases like cognitive dysfunction of schizophrenia, neuroinflammation, Huntington's disease, and sleep cycle management...
December 7, 2022: Chemico-biological Interactions
https://read.qxmd.com/read/36379156/psychotropic-medication-use-in-huntington-s-disease-a-retrospective-cohort-study
#14
JOURNAL ARTICLE
Ruben L Andriessen, Mayke Oosterloo, Angelique Hollands, David E J Linden, Bianca T A de Greef, Albert F G Leentjens
BACKGROUND: Whereas the treatment of motor symptoms in Huntington's disease (HD) receives much attention, less is known about the treatment of neuropsychiatric symptoms. OBJECTIVE: We aim to give an overview of psychotropic drug use in the treatment of neuropsychiatric symptoms across disease stages in HD. METHODS: We conducted a descriptive cross-sectional study of psychotropic drug prescriptions in a large longitudinal database of HD patients, Enroll HD...
December 2022: Parkinsonism & related Disorders
https://read.qxmd.com/read/36336960/an-insight-from-computational-approach-to-explore-novel-high-affinity-phosphodiesterase-10a-inhibitors-for-neurological-disorders
#15
JOURNAL ARTICLE
Bhanu Sharma, Dhananjay Bhattacherjee, Grigory V Zyryanov, Rituraj Purohit
The enzyme Phosphodiesterase 10A (PDE10A) plays a regulatory role in the cAMP/protein kinase A (PKA) signaling pathway by means of hydrolyzing cAMP and cGMP. PDE10A emerges as a relevant pharmacological drug target for neurological conditions such as psychosis, schizophrenia, Parkinson's, Huntington's disease, and other memory-related disorders. In the current study, we subjected a set of 1,2,3-triazoles to be explored as PDE10A inhibitors using diverse computational approaches, including molecular docking, classical molecular dynamics (MD) simulations, Molecular Mechanics Poisson-Boltzmann Surface Area (MM-PBSA) calculations, steered MD, and umbrella sampling simulations...
November 6, 2022: Journal of Biomolecular Structure & Dynamics
https://read.qxmd.com/read/35642353/glutamate-weighted-cest-glucest-imaging-for-mapping-neurometabolism-an-update-on-the-state-of-the-art-and-emerging-findings-from-in-vivo-applications
#16
JOURNAL ARTICLE
Abigail T J Cember, Ravi Prakash Reddy Nanga, Ravinder Reddy
Glutamate is the primary excitatory neurotransmitter in the mammalian central nervous system. As such, its proper regulation is essential to the healthy function of the human brain, and dysregulation of glutamate metabolism and compartmentalization underlies numerous neurological and neuropsychiatric pathologies. Glutamate-weighted Chemical Exchange Saturation Transfer (gluCEST) MRI is one of the only ways to non-invasively observe the relative concentration and spatial distribution of glutamate in the human brain...
May 31, 2022: NMR in Biomedicine
https://read.qxmd.com/read/35486527/clinical-correlates-of-depression-and-suicidality-in-huntington-disease-an-analysis-of-the-enroll-hd-observational-study
#17
JOURNAL ARTICLE
Natalia P Rocha, Madison R Tuazon, Jorge Patino, Erin Furr Stimming, Antonio L Teixeira
BACKGROUND: Depression and suicidality are commonly experienced by Huntington disease (HD) gene carriers. Research on these behavioral symptoms is imperative, not only to increase our understanding of the symptoms and how they relate to HD, but also to contribute to improving patients' care and quality of life. OBJECTIVE: To identify clinical variables associated with a history of depression and suicidality in HD gene carriers. METHOD: We conducted a cross-sectional study of HD gene carriers from the Enroll-HD database PDS4 (periodic data set 4; N = 11,582)...
April 22, 2022: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://read.qxmd.com/read/34847736/a-scoping-review-of-palliative-care-for-adults-with-huntington-s-disease-current-practice-and-future-directions
#18
REVIEW
Maie El-Sourady, Sara Martin, Hong-Nei Wong, Thomas Carroll
Context: Huntington's disease (HD) is a neurodegenerative disorder characterized by mid-life onset, cognitive decline, and behavioral disturbance. Objective: We conducted a review of the end-of-life (EOL) experience of HD patients and their families. Methods: We searched 5 electronic databases. Eligible studies were published in English and contained outcomes related to PC, end-of-life (EOL), advance directives (ADs), symptom management, or hospice use for HD adults. Results: We screened 1566 studies, assessed 244 studies, and included 27 studies...
March 2022: Journal of Palliative Medicine
https://read.qxmd.com/read/34842303/an-mds-evidence-based-review-on-treatments-for-huntington-s-disease
#19
REVIEW
Joaquim J Ferreira, Filipe B Rodrigues, Gonçalo S Duarte, Tiago A Mestre, Anne-Catherine Bachoud-Levi, Anna Rita Bentivoglio, Jean-Marc Burgunder, Francisco Cardoso, Daniel O Claassen, G Bernard Landwehrmeyer, Jaime Kulisevsky, Melissa J Nirenberg, Anne Rosser, Jan Roth, Klaus Seppi, Jaroslaw Slawek, Erin Furr-Stimming, Sarah J Tabrizi, Francis O Walker, Wim Vandenberghe, João Costa, Cristina Sampaio
BACKGROUND: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical manifestations. Its management is challenging, consisting mainly of off-label treatments. OBJECTIVES: The International Parkinson and Movement Disorder Society commissioned a task force to review and evaluate the evidence of available therapies for HD gene expansion carriers. METHODS: We followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach...
January 2022: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/34776851/quality-of-life-and-a-surveillant-endocannabinoid-system
#20
REVIEW
Ricardo Augusto de Melo Reis, Alinny Rosendo Isaac, Hércules Rezende Freitas, Mariana Macedo de Almeida, Patricia Fernanda Schuck, Gustavo Costa Ferreira, Belmira Lara da Silveira Andrade-da-Costa, Isis Hara Trevenzoli
The endocannabinoid system (ECS) is an important brain modulatory network. ECS regulates brain homeostasis throughout development, from progenitor fate decision to neuro- and gliogenesis, synaptogenesis, brain plasticity and circuit repair, up to learning, memory, fear, protection, and death. It is a major player in the hypothalamic-peripheral system-adipose tissue in the regulation of food intake, energy storage, nutritional status, and adipose tissue mass, consequently affecting obesity. Loss of ECS control might affect mood disorders (anxiety, hyperactivity, psychosis, and depression), lead to drug abuse, and impact neurodegenerative (Alzheimer's, Parkinson, Huntington, Multiple, and Amyotrophic Lateral Sclerosis) and neurodevelopmental (autism spectrum) disorders...
2021: Frontiers in Neuroscience
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