Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
AbstractThe most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the geneC9orf72. Importantly, the transcriptomic consequences of theC9orf72 repeat expansion remain largely unclear. Here, we used short-read RNA sequencing (RNAseq) to profile the cerebellar transcriptome, detecting alterations in patients with aC9orf72 repeat expansion. We focused on the cerebellum, since keyC9orf72-related pathologies are abundant in this neuroanatomical region, yet TDP-43 pathology and neuronal loss are minimal. Consistent with previous work, we show...
Source: Acta Neuropathologica - April 19, 2024 Category: Neurology Source Type: research
Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability
ConclusionOur study first demonstrates CP enlargement in vivo in ALS patients, and continues to suggest an important pathogenetic role for CP abnormalities in ALS. Moreover, assessing CP volume is likely a noninvasive and easy-to-implement approach for screening BCSFB dysfunction in ALS patients. (Source: Fluids and Barriers of the CNS)
Source: Fluids and Barriers of the CNS - April 17, 2024 Category: Neuroscience Source Type: research
Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability
Using in vivo neuroimaging techniques, growing evidence has demonstrated that the choroid plexus (CP) volume is enlarged in patients with several neurodegenerative diseases, including Alzheimer ’s disease and P... (Source: Cerebrospinal Fluid Research)
Source: Cerebrospinal Fluid Research - April 17, 2024 Category: Neurology Authors: Tingjun Dai, Jianwei Lou, Deyuan Kong, Jinyu Li, Qingguo Ren, Yujing Chen, Sujuan Sun, Yan Yun, Xiaohan Sun, Yiru Yang, Kai Shao, Wei Li, Yuying Zhao, Xiangshui Meng, Chuanzhu Yan, Pengfei Lin & hellip; Tags: Research Source Type: research
Correction
Volume 25, Issue 3-4, May 2024, Page (II)-(II) . (Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration)
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - April 17, 2024 Category: Neurology Source Type: research
Correction to: Cognitive function in amyotrophic lateral sclerosis: a cross ‑sectional and prospective pragmatic clinical study with review of the literature
(Source: Neurological Sciences)
Source: Neurological Sciences - April 16, 2024 Category: Neurology Source Type: research
Using an expanded algorithm to estimate prevalence of amyotrophic lateral sclerosis in U.S. and UK
ConclusionsThe expanded algorithm enabled the identification of a large population with ALS, or possible ALS, and the estimation of ALS prevalence in MarketScan and CPRD. (Source: Neurological Sciences)
Source: Neurological Sciences - April 16, 2024 Category: Neurology Source Type: research
Longitudinal Changes in the Retinal Nerve Fiber Layer Thickness in Amyotrophic Lateral Sclerosis and Parkinson's Disease: A Comparative Study
CONCLUSIONS: The RNFL thickness is a promising biomarker of disease progression in patients with ALS but not in those with PD, which has a slower disease progression.PMID:38627230 | DOI:10.3988/jcn.2023.0353 (Source: Journal of Clinical Neurology)
Source: Journal of Clinical Neurology - April 16, 2024 Category: Neurology Authors: Sharifah Azira Taufik Norlina Ramli Ai Huey Tan Shen-Yang Lim Mohd Taufiq Abdul Ghani Nortina Shahrizaila Source Type: research
