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http://dx.doi.org/10.1016/j.ajhg.2017.09.006 | DOI Listing |
Neurol Sci
September 2025
Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vascular formations across multiple organ systems, including the brain. While arteriovenous malformations (AVMs) are well recognized in HHT, non-AVM cerebrovascular malformations remain underreported and poorly understood manifestations of the disease.
Methods: A systematic review was conducted using multiple databases, applying a two-step screening process to exclude studies with insufficient, irrelevant, or incomplete data.
Inherited bone marrow failure syndrome 1 (IBMFS1) is a rare autosomal dominant disorder associated with mutations in the SRP72 gene. However, mutations in this gene are exceedingly rare, and the clinical manifestations are often nonspecific, leading to delayed or misdiagnosed cases. The incidence, lifetime risk, and clinical management guidelines for SRP72-related IBMFS1 are poorly understood due to its rarity.
View Article and Find Full Text PDFMov Disord Clin Pract
September 2025
Department of neuroscience, UC San Diego, San Diego, California, USA.
Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Although balance impairment is recognized in HD, its onset and evolution with disease stage remain poorly understood.
Objective: The aim was to track the onset and evolution of balance impairment in HD with progression of disease stage using the BTrackS Balance Plate.
Alzheimers Dement
September 2025
Cell Biology Program, Sloan Kettering Institute, New York, New York, USA.
Introduction: Biomarkers are essential for monitoring the progression of frontotemporal dementia (FTD). Although dysregulated brain lipid metabolism, particularly sphingolipids enriched in the nervous system, is a key feature of neurodegeneration, plasma lipids remain underexplored as biomarkers compared to imaging and serum proteins.
Methods: We examined plasma lipidomes using liquid chromatography-tandem mass spectrometry (LC-MS/MS) from individuals carrying pathogenic variants linked to autosomal dominant FTD (GRN, C9orf72, MAPT) and non-carriers.
PLoS One
September 2025
Department of Pharmacy, Faculty of Science, Noakhali Science and Technology University, Sonapur, Bangladesh.
Background: Overexpression of rs3761936 of DCLRE1B gene has been observed in both breast cancer and cervical cancer patients. To justify the association of this polymorphism with these cancers, we performed this case-control study.
Method: A total of 245 cancer patients and 108 healthy controls participated in the research.