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Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
August 2024
Department of Neurology, Second Xiangya Hospital, Central South University, Changsha 410011.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive genetic disorder caused by mutations in the gene, leading to a variety of clinical manifestations. In October 2022, the Second Xiangya Hospital of Central South University admitted a 21-year-old male patient with neuropsychiatric disorders, presenting primarily with cognitive decline, limb tremors, abnormal mental and behavioral symptoms, seizures, and gait disturbances. These symptoms had gradually developed over 5 years, worsening significantly in the past year.
View Article and Find Full Text PDFPolymorphisms, Homocysteine Elevation, and Ischemic Stroke Susceptibility in East Asian and European Populations.
Neurology
February 2025
Department of Integrated Traditional Chinese and Western Medicine, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Background And Objectives: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme that regulates folate and homocysteine metabolism. Genetic variation in has been implicated in cerebrovascular disease risk, although research in diverse populations is lacking. We thus aimed to investigate the effect of genetically predicted MTHFR activity on risk of ischemic stroke (IS) and its main subtypes using a multiancestry Mendelian randomization (MR) approach.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Healthy Brain Ageing Program, Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia.
Background: Inflammation is becoming increasingly recognised as a core feature of dementia and neurodegenerative processes. High-sensitivity C-reactive protein (hs-CRP) and homocysteine are blood-based markers of non-specific inflammation used in clinical settings. This study aimed to 1) investigate the associations of hs-CRP and homocysteine on neuropsychological performance (i.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Innovation Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, Beijing, China;, Beijing, China.
Background: Metabolic syndrome (MetS) was associated with an increased incidence of mild cognitive impairment (MCI) and progression to dementia. However, little is known about why this occurs. This study was to examine the correlation between the MetS indicators and cerebrospinal fluid (CSF) pathological protein biomarkers to investigate this mechanism.
View Article and Find Full Text PDFAssociation Between Folate Metabolism Risk, Collateral Circulation, and Hemorrhagic Risk in Moyamoya Disease.
Transl Stroke Res
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, No.119 Nan Si Huan Xi Road, Fengtai District, Beijing, China.
Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms are known risk factors for vascular diseases due to the impact on folate metabolism dysfunction and homocysteine (Hcy) accumulation. This study aimed to investigate the association between folate metabolism risk and hemorrhagic risk in moyamoya disease (MMD). In this prospective study, we enrolled 350 MMD patients with complete genotype data for MTHFR and MTRR.
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