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Our study aimed to explore the intellectual function of patients with Duchenne muscular dystrophy (DMD) in China and examine the correlation of full-scale intelligence quotient (FSIQ) with age, mutation locations, mutation class, and dystrophin isoforms. We assessed 64 boys with DMD using The Wechsler Intelligence Scales for Children-Fourth Edition and compared intellectual function at enrollment and follow-up in the 15 patients who completed the follow-up. Our findings confirm that boys with DMD may exhibit cognitive impairment, with the Working Memory Index being the most impaired. There was no significant correlation between FSIQ and age; however, a positive correlation was noted between age and the Verbal Comprehension Index. FSIQ was not associated with mutation class, the number of affected mutated exons, or mutation locations. However, there was a significant difference in FSIQ between the groups with intact and deficient Dp140. Fifteen participants adhered to glucocorticoid therapy throughout the two-year follow-up period, and eleven of them showed an improvement in FSIQ compared to their initial scores, with improvement ranging from 2 to 20. In conclusion, patients with the cumulative loss of isoforms in the brain are at a higher risk of cognitive deficits and may require early cognitive interventions.
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http://dx.doi.org/10.1016/j.nmd.2023.06.001 | DOI Listing |
Front Psychiatry
December 2024
Department of Neuroscience, University of Padua, Padua, Italy.
Dementia with Lewy bodies (DLB) and its prodromal presentation with mild cognitive impairment is characterized by prominent deficits in attention/executive domains and in visual processing abilities with relative sparing of memory. Neuropsychological research is continuously refining the tools to define more in detail the patterns of relatively preserved and impaired cognitive abilities that help differential diagnosis between DLB and Alzheimer disease (AD). This review summarizes the main studies exploring specific cognitive tasks investigating different visual processing abilities and verbal memory that better differentiate DLB from AD.
View Article and Find Full Text PDFNeurol Clin Pract
February 2025
University of Rochester School of Medicine and Dentistry (JS, AV); Center for Health and Technology (CHeT) (JS, JW, AV, SJR, CE, AA, CZ, CRH), University of Rochester; University of Utah Spencer Fox Eccles School of Medicine (SJR); Des Moines University College of Osteopathic Medicine (AA); Department of Biostatistics and Neurology (ND), University of Rochester; Alzheimer's Disease Care, Research and Education Program (AD-CARE) (AM, SS-S, EJS), University of Rochester; and Department of Neurology (CRH), University of Rochester.
Background And Objectives: In preparation for future clinical trials involving individuals with Alzheimer disease (AD), mild cognitive impairment (MCI), and dementia, it is important to ascertain the widespread impact of symptoms from the direct perspectives of patients and caregivers. In this study, we performed cross-sectional surveys using large-scale patient and caregiver data to identify the prevalence and average impact of symptoms and symptomatic themes experienced by adults with AD, MCI, and dementia. Subsequent analyses were used to determine which demographic and disease-specific factors are associated with more severe disease.
View Article and Find Full Text PDFeNeurologicalSci
March 2025
Department of Cognitive Neurology, Fleni, Montañeses 2325 (C1428AQK), Buenos Aires, Argentina.
Background: This systematic review analyzes the impact of COVID-19 on dementia patients' functional, cognitive, neuropsychiatric, and health related outcomes. It hypothesizes that dementia patients infected with SARS-CoV-2experience more pronounced deterioration compared to those who are uninfected.
Methods: Research from 01/03/2020 to 07/10/2023 was conducted using Medline, Web of Science, and Embase databases, and adhering to PRISMA guidelines and the PICO framework.
Front Neurol
December 2024
Henan Academy of Innovations in Medical Science, Brain Institute, Zhengzhou, China.
Parkinson's disease (PD) is a chronic, progressive neurological disorder primarily affecting motor control, clinically characterized by resting tremor, bradykinesia, rigidity, and other symptoms that significantly diminish the quality of life. Currently, available treatments only alleviate symptoms without halting or delaying disease progression. There is a significant association between PD and type 2 diabetes mellitus (T2DM), possibly due to shared pathological mechanisms such as insulin resistance, chronic inflammation, and mitochondrial dysfunction.
View Article and Find Full Text PDFJ Gerontol A Biol Sci Med Sci
December 2024
Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China.
Ribosome-associated quality control (RQC), a ubiquitous process essential for maintaining protein homeostasis in eukaryotes, acts as a critical surveillance system for protein translation. By identifying and eliminating stalled ribosomes, RQC prevents aberrant translation and the production of potentially toxic misfolded proteins. The review focuses on the role of RQC in mammals, where its complete functionality remains to be elucidated.
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