NCBI Aggregator

Int J Mol Sci. 2025 Oct 7;26(19):9755. doi: 10.3390/ijms26199755.ABSTRACTSeveral genetic diseases affecting the human nervous system are incurable and insufficiently understood. Among them, nine rare diseases form the polyglutamine (polyQ) family: Huntington's disease (HD), spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17, dentatorubral pallidoluysian atrophy, and spinal and...Read more

Cells. 2025 Sep 28;14(19):1514. doi: 10.3390/cells14191514.ABSTRACTHuntington's Disease (HD) is an inherited neurodegenerative condition caused by an expansion of CAG repeats in the Huntingtin (HTT) gene, leading to a toxic form of the HTT protein. Despite advances in understanding the disease and developing symptomatic treatments, effective therapies for modifying its progression...Read more

J Clin Invest. 2025 Oct 15;135(20):e187941. doi: 10.1172/JCI187941. eCollection 2025 Oct 15.ABSTRACTDysfunction of striatal medium spiny neurons (MSNs) is implicated in several neurological disorders, including Huntington's disease (HD). Despite progress in characterizing MSN pathology in HD, mechanisms underlying MSN susceptibility remain unknown, driving the need for MSNs derived from human...Read more

J Neurol. 2025 Oct 14;272(10):693. doi: 10.1007/s00415-025-13453-x.ABSTRACTOBJECTIVE: To estimate prevalence and describe clinical and genetic features of Huntington's disease (HD) in the Middle East, North Africa, and Turkey (MENAT).METHODS: We conducted a PRISMA-guided systematic review and meta-analysis of EMBASE, PubMed, and Scopus from inception to October 2024. All study designs...Read more

Sci Rep. 2025 Oct 3;15(1):34563. doi: 10.1038/s41598-025-17956-5.ABSTRACTHuntington's disease (HD) is an inherited neurodegenerative disease. In humans, the clinical diagnosis is often dependent on the emergence of motor symptoms. However, cognitive impairments and metabolic changes can be early indicators. HD mouse models are a useful tool to understand disease progression, however,...Read more

Int J Mol Sci. 2025 Sep 13;26(18):8934. doi: 10.3390/ijms26188934.ABSTRACTCortical transcriptional dysregulation is widespread in Huntington's disease (HD). We re-examined prefrontal Brodmann Area 9 (BA9) RNA-seq (GSE64810; 20 HD, 49 controls) using BH-FDR and GEO2R to obtain differential-expression statistics for downstream in silico integration. A compact, direction-aware 80-gene...Read more

Int J Mol Sci. 2025 Sep 13;26(18):8930. doi: 10.3390/ijms26188930.ABSTRACTiPSCs and their derivatives are used to investigate the molecular genetic mechanisms of human diseases, to identify therapeutic targets, and to screen for small molecules. Combining technologies for generating patient-specific iPSC lines and genome editing allows us to create...Read more

Parkinsonism Relat Disord. 2025 Nov;140:108017. doi: 10.1016/j.parkreldis.2025.108017. Epub 2025 Sep 3.ABSTRACTINTRODUCTION: Chorea and behavioral symptoms in Huntington's disease (HD) have been treated with neuroleptics and related drugs for over 50 years, yet direct randomized comparisons are scarce. This study assessed the efficacy and safety of olanzapine, tetrabenazine, and tiapride in...Read more

Med Sci (Basel). 2025 Sep 22;13(3):201. doi: 10.3390/medsci13030201.ABSTRACTBACKGROUND: Huntington's disease (HD) causes progressive motor dysfunction, with chorea as its hallmark symptom. Vesicular monoamine transporter 2 (VMAT 2) inhibitors (tetrabenazine, deutetrabenazine, valbenazine) are established symptomatic therapies, while dopamine stabilizers (pridopidine, ordopidine) are emerging therapies, but their net benefit...Read more

Parkinsonism Relat Disord. 2025 Nov;140:108040. doi: 10.1016/j.parkreldis.2025.108040. Epub 2025 Sep 15.ABSTRACTBACKGROUND: Huntington's Disease (HD) is characterized by brain metabolic dysfunction, but no studies to date have directly measured cerebral ATP levels in patients with HD.OBJECTIVE: To compare cerebral ATP between individuals with pre-motor-manifest HD (preHD) and healthy controls (HC).METHODS: Cerebral...Read more

Inflammopharmacology. 2025 Oct;33(10):6231-6249. doi: 10.1007/s10787-025-01889-6. Epub 2025 Sep 16.ABSTRACTRenin-Angiotensin System has been implicated in neurodegenerative diseases such as Huntington's (HD). It is made up of two axes: one is the Angiotensin II Type 1 receptor (AT1R) or Angiotensin II Type 2 receptor (AT2R), while the other is angiotensin-(1-7) [Ang-(1-7)], and...Read more

Int J Mol Sci. 2025 Sep 3;26(17):8573. doi: 10.3390/ijms26178573.ABSTRACTThe pathogenesis and pathophysiology of Huntington's disease (HD) are still incompletely understood, despite the remarkable advances in identifying the molecular effects of the Htt mutation in this disease. Clinical positron emission tomography studies suggest that phosphodiesterase 10A (PDE10A) declines...Read more

Exp Neurol. 2025 Dec;394:115461. doi: 10.1016/j.expneurol.2025.115461. Epub 2025 Sep 12.ABSTRACTHuntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG-repeat expansion in exon-1 of the huntingtin gene. Currently, no disease-modifying therapies are available, with a significant challenge in evaluating therapeutic efficacy before clinical symptoms emerge. This...Read more

Inflammopharmacology. 2025 Oct;33(10):6211-6226. doi: 10.1007/s10787-025-01933-5. Epub 2025 Sep 10.ABSTRACTThe neuroprotective potential of tyrosine kinase inhibitors (TKIs), potent anticancer drugs, was verified against various neurodegenerative insults, but not Huntington's disease (HD). These promising outcomes were due to their ability to modulate various intracellular signalling pathways. Hence, the current study aimed to...Read more

Neurogenetics. 2025 Sep 6;26(1):66. doi: 10.1007/s10048-025-00848-1.ABSTRACTHuntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by CAG repeat expansions in the HTT gene, resulting in the formation of mutant huntingtin protein that aggregates and disrupts...Read more