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Huntington's Disease 

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  1. Open Access 01-12-2024 | Huntington's Disease | OriginalPaper

    Primary health care professionals’ experiences with caring for patients with advanced Huntington’s disease: a qualitative study

    Huntington’s disease (HD) is a neurodegenerative disorder, caused by CAG trinucleotide repeat expansion in the huntingtin gene (HTT). HD affects people in the middle of adult life usually between 30 and 50 years of age and is characterized by …

  2. 23-04-2024 | Huntington's Disease | Online First

    Neuroinflammation and the role of epigenetic-based therapies for Huntington’s disease management: the new paradigm

    Huntington’s disease (HD) is an inherited, autosomal, neurodegenerative ailment that affects the striatum of the brain. Despite its debilitating effect on its patients, there is no proven cure for HD management as of yet. Neuroinflammation …

  3. Open Access 01-12-2024 | Huntington's Disease | ReviewPaper

    Health state utility estimates for value assessments of novel treatments in Huntington’s disease: a systematic literature review

    Huntington’s disease (HD) is a hereditary neurodegenerative disease characterized by cognitive and motor decline and behavioral symptoms [ 1 ]. Although HD is considered rare, it affects patients worldwide. A recently published meta-analysis …

  4. Open Access 01-12-2024 | Huntington's Disease | ReviewPaper

    Dietary fasting and time-restricted eating in Huntington’s disease: therapeutic potential and underlying mechanisms

    Huntington's disease (HD) is a devastating neurodegenerative disorder caused by aggregation of the mutant huntingtin (mHTT) protein, resulting from a CAG repeat expansion in the huntingtin gene HTT. HD is characterized by a variety of debilitating …

  5. 24-01-2024 | Huntington's Disease | ReviewPaper

    Mild cognitive impairment in Huntington’s disease: challenges and outlooks

    Although Huntington's disease (HD) has classically been viewed as an autosomal-dominant inherited neurodegenerative motor disorder, cognitive and/or behavioral changes are predominant and often an early manifestation of disease. About 40% of …

  6. Open Access 01-04-2024 | Huntington's Disease | Online First

    Safety of Deutetrabenazine for the Treatment of Tardive Dyskinesia and Chorea Associated with Huntington Disease

    Tardive dyskinesia (TD) and Huntington disease (HD) are hyperkinetic movement disorders that negatively impact quality of life and can be socially stigmatizing [ 1 – 3 ]. TD is caused by dopamine receptor antagonists (DRAs). The estimated frequency …

  7. 23-01-2024 | Huntington's Disease | OriginalPaper

    Nuclear translocation of STAT5 initiates iron overload in huntington’s disease by up-regulating IRP1 expression

    Mutant huntingtin (mHtt) proteins interact to form aggregates, disrupting cellular functions including transcriptional dysregulation and iron imbalance in patients with Huntington’s disease (HD) and mouse disease models. Previous studies have …

  8. Open Access 04-03-2024 | Huntington's Disease | Online First

    Cardiac autonomic involvement in Huntington’s disease

    Cytosine-adenine-guanine (CAG) trinucleotide repeat expansions in exon-1 of the Huntingtin gene (HTT) are the cause of Huntington’s disease (HD), an inherited neurological condition that runs in the autosomal dominant mode [ 1 ]. As a result of the …

  9. 18-11-2023 | Huntington's Disease | Letter

    Plasma GFAP and its association with disease severity in Huntington’s disease

  10. 17-11-2023 | Huntington's Disease | OriginalPaper

    Real-world experience with Deutetrabenazine management in patients with Huntington’s disease using video-based telemedicine

    Huntington’s disease (HD) is an autosomal-dominant neurological disorder caused by the expansion of CAG repeats in the HTT gene [ 1 ]. It is a devastating and progressive disease that leads to uncontrolled movements, cognitive and psychiatric …

  11. Open Access 01-12-2024 | Huntington's Disease | OriginalPaper

    TYROBP/DAP12 knockout in Huntington’s disease Q175 mice cell-autonomously decreases microglial expression of disease-associated genes and non-cell-autonomously mitigates astrogliosis and motor deterioration

    Huntington’s disease (HD) is a neurodegenerative disease caused by an expansion of the trinucleotide CAG within exon-1 of the Huntingtin ( HTT ) gene. The resultant protein (mutant Huntingtin; mHtt) contains an aberrant polyglutamine tail to which …

  12. Open Access 01-12-2024 | Amyotrophic Lateral Sclerosis | OriginalPaper

    Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study

    Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disorder, which is defined by motor neuron loss in brain cortex, brainstem, and the spinal cord [ 1 ]. Similar to other neurodegenerative diseases, ALS occurs …

  13. Open Access 01-12-2024 | Huntington's Disease | OriginalPaper

    Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington’s disease

    We previously identified solute carrier family 7 member 2 (SLC7A2) as one of the top upregulated genes when normal Huntingtin was deleted. SLC7A2 has a high affinity for l-arginine. Arginine is implicated in inflammatory responses, and SLC7A2 is …

  14. 06-02-2024 | Huntington's Disease | News | Article

    No motor benefit for laquinimod in Huntington’s disease

    LEGATO-HD study suggests treatment with laquinimod for a year does not result in motor benefits for patients with Huntington’s disease, but it does significantly slow caudate volume loss.

  15. 13-02-2024 | Huntington's Disease | Online First

    The pathobiology of depression in Huntington’s disease: an unresolved puzzle

    Huntington’s disease (HD) is an autosomal-dominant progressive neurodegenerative disease that manifests with a triad of symptoms including motor dysfunctions, cognitive deficits, and prominent neuropsychiatric symptoms, the most common of which is …

  16. Open Access 16-10-2023 | Huntington's Disease | Case Study

    Memantine administration prevented chorea movement in Huntington’s disease: a case report

    Huntington’s disease has no effective treatment to prevent progression and its involuntary motor symptoms but, in this 75-year-old patient, daily memantine has prevented chorea and disease progression for 5 years.

  17. 28-09-2023 | Huntington's Disease | OriginalPaper

    Validity, diagnostics and feasibility of the Italian version of the Montreal Cognitive Assessment (MoCA) in Huntington’s disease

    Screening for cognitive dysfunctions in Huntington’s disease (HD) patients is pivotal at both prognostic and interventional levels [ 1 ]. Moreover, cognitive screening measures are routinely employed as primary/secondary endpoints within …

  18. Open Access 11-09-2023 | Huntington's Disease | OriginalPaper

    The relationship between disease-specific psychosocial stressors and depressive symptoms in Huntington’s disease

    Huntington’s disease (HD) is a hereditary neurodegenerative disease characterized by progressive motor and cognitive decline, and psychological difficulties [ 1 ]. HD is caused by an abnormal expansion in the number of cytosine–adenine–guanine …

  19. Open Access 16-11-2023 | Huntington's Disease | Guideline

    Symptomatic treatment options for Huntington’s disease (guidelines of the German Neurological Society)

    Ameliorating symptoms in HD can be challenging as treating one facet of the disease phenotype can impact others. These guidelines aim to enable informed care decisions and outline potential treatment strategies.

  20. Open Access 01-12-2023 | Huntington's Disease | OriginalPaper

    The improvement of motor symptoms in Huntington’s disease during cariprazine treatment

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