Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/mds.23180 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.
Neurocase
January 2025
Department of Neurology, Dongguk University College of Medicine, Dongguk University Gyeongju Hospital, Gyeongju, Republic of Korea.
Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the ATN1 gene, characterized by diverse neurological and psychiatric symptoms. We report a 23-year-old patient with juvenile-onset seizures, cognitive decline, and ataxia, progressing to psychosis by age 31. Initial brain MRI showed minimal cerebellar atrophy, with prominent atrophy evident on follow-up imaging.
View Article and Find Full Text PDFLocation of polyglutamine track affects pathogenic threshold of polyglutamine expansion diseases - Importance of association with the proteasome.
Biochem Biophys Res Commun
January 2025
Laboratory of Molecular Neurodegeneration, Peter the Great St Petersburg State Polytechnical University, St Petersburg, 195251, Russian Federation. Electronic address:
The expansion of glutamine residue track (polyQ) within soluble proteins (Q proteins) is responsible for nine autosomal-dominant genetic neurodegenerative disorders. These disorders develop when polyQ expansion exceeds a specific pathogenic threshold (Q) which is unique for each disease. However, the pathogenic mechanisms associated with the variability of Q within the family of Q proteins are poorly understood.
View Article and Find Full Text PDFDentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.
Ann Indian Acad Neurol
October 2024
Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Article Synopsis
- Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease characterized by symptoms like ataxia, dementia, and epilepsy, caused by an expansion of CAG repeats in the ATROPHIN 1 (ATN1) gene.
- Researchers developed Drosophila (fruit fly) models that express either normal ATN1 (Q7) or a pathogenic version with expanded repeats (Q88), revealing that the pathogenic variant significantly reduces fly motility, lifespan, and affects internal structures more severely than the normal version.
- RNA sequencing identified pathways related to protein quality control that are altered by pathogenic ATN1, and subsequent genetic experiments highlighted the
Erucin, a Natural Isothiocyanate, Prevents Polyglutamine-Induced Toxicity in via /AMPK and /FOXO Signaling.
Int J Mol Sci
November 2024
Department for Life Quality Studies, University of Bologna, 47921 Rimini, Italy.
Article Synopsis
- Several neurodegenerative diseases, like Huntington's and Parkinson's, are linked to harmful long polyglutamine (polyQ) tracts.
- Researchers explored the effects of erucin (ERN), a natural compound found in rocket salad, and sulforaphane (SFN) in broccoli, on polyQ toxicity.
- The study found that ERN protects against polyQ-induced toxicity by working through the AMPKα2 enzyme and the FOXO transcription factor, and also showed potential for reducing α-synuclein aggregates in Parkinson's disease, suggesting further research in mouse models is needed to assess its protective effects in humans.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!