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Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.
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http://dx.doi.org/10.3892/br.2022.1587 | DOI Listing |
Expert Opin Ther Pat
December 2024
Department of Pharmaceutical Chemistry, School of Pharmacy, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Introduction: Neuroinflammation is correlated to neurodegenerative diseases like Alzheimer's disease (AD), Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), Huntington Disease (HD) and Parkinson's disease (PD). A lot of recent research and patents are focused on the design and synthesis of arachidonic acid Lipoxygenase (ALOX) inhibitors for the treatment of neurodegenerative diseases.
Areas Covered: The survey covers natural products, synthesis, hybrids, and assessments of biological effects in biological studies as ALOX inhibitors.
Neurobiol Dis
December 2024
Department of Psychiatry, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC, Canada. Electronic address:
Background: Altered balance between striatal direct and indirect pathways contributes to early motor, cognitive and psychiatric symptoms in Huntington disease (HD). While degeneration of striatal D2-type dopamine receptor (D2)-expressing indirect pathway medium spiny neurons (iMSNs) occurs prior to that of D1-type dopamine receptor (D1)-expressing direct pathway neurons, altered corticostriatal synaptic function precedes degeneration. D2-mediated signaling on iMSNs reduces their excitability and promotes endocannabinoid (eCB) synthesis, suppressing glutamate release from cortical afferents.
View Article and Find Full Text PDFJ Neurosci Res
December 2024
Department of Pharmacology and Clinical Pharmacology, Faculty of Medical and Health Sciences, School of Medical Science, Centre for Brain Research, University of Auckland, Auckland, New Zealand.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder traditionally characterized by the selective loss of medium spiny neurons in the basal ganglia. However, it has become apparent that white matter injury and oligodendrocyte dysfunction precede the degeneration of medium spiny neurons, garnering interest as a key pathogenic mechanism of HD. Oligodendrocytes are glial cells found within the central nervous system involved in the production of myelin and the myelination of axons.
View Article and Find Full Text PDFBrain Commun
November 2024
Department of Neurodegenerative Disease, Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression.
View Article and Find Full Text PDFCureus
November 2024
Internal Medicine, Marshall University Joan C. Edwards School of Medicine, Huntington, USA.
Prosthetic joint infection (PJI), caused by Streptococcus bovis group (SBG), is uncommon and related to colorectal cancer. We present here a case of an 84-year-old male who had a past medical history of chronic obstructive pulmonary disease (COPD), congestive heart failure, pulmonary arterial hypertension, iron deficiency anemia, chronic kidney disease, diabetes mellitus, gout, hypertension, bilateral knee replacement with left knee pain and swelling. We initially suspected gout and treated him with prednisolone, but it did not relieve him.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!