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Late-onset CSF1R-related Disorder: A Case Report.
Cogn Behav Neurol
January 2025
Department of TCM Internal Medicine, Ganzhou Nankang Hospital of Traditional Chinese Medicine, Ganzhou, China.
CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis.
View Article and Find Full Text PDFMontreal cognitive assessment as a cognitive outcome measure in progressive supranuclear palsy.
Front Neurol
December 2024
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
Background: The Montreal Cognitive assessment (MoCA) is a well-validated global cognitive screening instrument. Its validity in progressive supranuclear palsy (PSP) has not been assessed.
Objectives: To evaluate the MoCA as an outcome measure in PSP clinical trials.
Potential Regulation of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript1 by Estrogen in Parkinson's Disease.
Life (Basel)
December 2024
Institute of Global Health and Human Ecology, School of Science and Engineering, American University in Cairo, AUC Avenue, New Cairo 11835, Egypt.
Parkinson's disease (PD) is the second-leading cause of death among neurodegenerative disease after Alzheimer's disease (AD), affecting around 2% of the population. It is expected that the incidence of PD will exceed 12 million by 2040. Meanwhile, there is a recognized difference in the phenotypical expression of the disease and response to treatment between men and women.
View Article and Find Full Text PDFProminent Head and Arm Tremor in Late-Onset Pelizaeus-Merzbacher-Like Disease 1.
Mov Disord Clin Pract
January 2025
Division of Neurology University of Toronto, Movement Disorder Clinic, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
Association between GRIN2B polymorphism and Parkinson's disease risk, age at onset, and progression in Southern China.
Front Neurol
December 2024
Department of Neurology, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.
Background And Objectives: The role of N-methyl-D-aspartate receptor 2B (GRIN2B) single nucleotide polymorphisms (SNPs) in influencing the risk and progression of Parkinson's disease (PD) is still unclear. This study aimed to assess the impact of GRIN2B genotype status on PD susceptibility and symptom progression.
Methods: We enrolled 165 individuals with sporadic PD and 154 healthy controls, all of whom had comprehensive clinical data available at the start and during follow-up.
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