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Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort.
Cerebellum
March 2025
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Polyglutamine ataxias are autosomal dominantly inherited neurodegenerative disorders in which the molecular aetiology is an expanded CAG glutamine-encoding repeat in the causative genes. At present, there is no effective treatment, but there are several ongoing trials addressing polyglutamine disorders increasing the need of knowledge about prevalence and relative frequencies of the different subtypes. To identify all individuals with genetically confirmed polyglutamine ataxia in Denmark, determine frequency of subtypes and estimate the incidences.
View Article and Find Full Text PDFThe breaking point where repeat expansion triggers neuronal collapse in Huntington's disease.
Cell Genom
March 2025
Huntington's Disease Centre and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology and UK Dementia Research Institute, UCL, London, UK. Electronic address:
Somatic CAG expansion drives neuronal loss in Huntington's disease (HD), but how expansion results in pathogenesis has remained unclear. Handsaker et al. use single-cell RNA and repeat length sequencing to reveal a phased model of expansion and toxicity, highlighting a critical tipping point beyond 150 CAG repeats where neuronal identity collapses and cells die.
View Article and Find Full Text PDFCAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain.
Cerebellum
March 2025
Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Spinocerebellar ataxia type 12 (SCA12), an autosomal dominant cerebellar ataxia, caused by an expansion of (CAG) in the 5' of the PPP2R2B gene on chr5q32, is common in India. The illness often manifests late in life, with diverse neurological and psychiatric symptoms, suggesting involvement of different brain regions. Prominent neuronal loss and atrophy of the cerebellum have been noted earlier.
View Article and Find Full Text PDFEarly Alterations of Motor Learning and Corticostriatal Network Activity in a Huntington's Disease Mouse Model.
Eur J Neurosci
March 2025
INMED, Aix-Marseille University, INSERM U1249, Marseille, France.
Huntington's disease (HD) is a neurodegenerative disorder that presents motor, cognitive, and psychiatric symptoms as it progresses. Prior to motor symptoms onset, alterations, and dysfunctions in the corticostriatal projections have been described along with cognitive deficits, but the sequence of early alterations of brain circuits is largely unknown. There is thus a crucial need to identify early alterations that precede symptoms and that could be used as potential early disease markers.
View Article and Find Full Text PDFA Adenosine Receptor Antagonists and Their Efficacy in Rat Models of Parkinson's Disease.
Cells
February 2025
Medicinal Chemistry Unit, School of Pharmacy, University of Camerino, Via Madonna delle Carceri, I-62032 Camerino, Italy.
Parkinson's disease (PD) represents a growing challenge to global health, as it involves millions of people. The high grade of disability is due to the loss of dopaminergic neuron activity, and levodopa is the gold-standard therapy used to restore dopamine in the dopamine-denervated regions. Another therapeutic approach is the use of A adenosine receptor antagonists and, among them, istradefylline is the only one currently approved for therapy in association with levodopa.
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