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| http://dx.doi.org/10.1016/j.parkreldis.2024.107225 | DOI Listing |
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Late-onset chorea as first manifestation of cerebral amyloid angiopathy.
Parkinsonism Relat Disord
December 2024
Movement Disorders Unit, Department of Neurology, University Hospital Josep Trueta, Girona - Hospital Santa Caterina, Salt, Spain.
Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.
Cerebellum
December 2024
Division for Neurodegenerative Diseases, Department of Neurology, Universitaetsmedizin Mannheim, University of Heidelberg, Mannheim, Germany.
Genetic alterations in the ERCC4 gene typically cause Xeroderma pigmentosum and other nucleotide excision repair disorders. Neurologic symptoms are present in some of these patients. In rare cases, ERCC4-mutations can manifest with prominent neurologic symptoms.
View Article and Find Full Text PDFPredicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda.
Eur J Hum Genet
November 2024
Dept. of Medical Ethics, Philosophy, and History of Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.
Currently, a prognostic biomarker-based model is being developed to predict the onset and disease progression of Huntington's Disease (HD) and Spinocerebellar Ataxia (SCA) types 1 and 3, both late-onset genetic neurodegenerative diseases lacking a disease-modifying treatment (DMT). The need for more accurate predictions of onset and disease progression arises in the context of clinical trials evaluating the effectiveness of potential DMTs and identifying the optimal time to initiate such a DMT. Moreover, such a prognostic model may provide mutation carriers with personal utility.
View Article and Find Full Text PDFEpidemiology of Huntington's Disease in Latin America: A Systematic Review and Meta-Analysis.
Mov Disord
November 2024
Servicio de Movimientos Anormales, Departamento de Neurología, FLENI, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
Article Synopsis
- A study conducted on Huntington's disease (HD) in Latin America found that previous global reviews have overlooked significant regional data, prompting a search across Spanish, Portuguese, and English databases to gather relevant studies.
- The research identified 24 studies from 12 of the 36 Latin American countries, revealing a pooled prevalence of HD at 0.64 per 100,000 people, with higher rates specifically in Mexico, Peru, and Brazil.
- The authors suggest that the actual prevalence of HD may be underestimated due to limited research, underdiagnosis, and insufficient access to molecular testing and specialists in the region, emphasizing the need for further studies to enhance understanding and access to care.
Crossed-reflex in antiphospholipid chorea.
Neurol Sci
September 2024
Department of Neurology, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.
Chorea is a hyperkinetic movement disorder associated with various underlyingconditions, including autoimmune diseases such as antiphospholipid syndrome (APS). APS can manifest with a wide range of neurological symptoms, including chorea. We present a case of a 77-year-old man with subacute generalized chorea secondary to primary APS.
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