In neurodegenerative diseases, changes in neuronal proteins in the cerebrospinal fluid and blood are viewed as potential biomarkers of the primary pathology in the central nervous system (CNS). Recent reports suggest, however, that level of neuronal proteins in fluids also alters in several types of epilepsy in various age groups, including children. With increasing evidence supporting clinical and sub-clinical seizures in Alzheimer's disease, Lewy body dementia, Parkinson's disease, and in other less common neurodegenerative conditions, these findings call into question the specificity of neuronal protein response to neurodegenerative process and urge analysis of the effects of concomitant epilepsy and other comorbidities. In this article, we revisit the evidence for alterations in neuronal proteins in the blood and cerebrospinal fluid associated with epilepsy with and without neurodegenerative diseases. We discuss shared and distinctive characteristics of changes in neuronal markers, review their neurobiological mechanisms, and consider the emerging opportunities and challenges for their future research and diagnostic use.
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http://dx.doi.org/10.1007/s13311-023-01355-7 | DOI Listing |
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Optometry, and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Purpose: Changes associated with Alzheimer's disease (AD) may have measurable effects on the retina, which may facilitate early detection due to the eye's accessibility. Retinal pathology and the regulation of serine racemase (SR) were investigated in the retinas of APP(SW)/PS1(∆E9) mice.
Methods: SR in the retinas and the content of D-serine in the aqueous humor were analyzed.
J Neurol
January 2025
Center for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.
Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.
Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.
J Neurol
January 2025
Sleep Unit, Neurology Service, Hospital Clínic Barcelona, IDIBAPS, CIBERNED, Universitat de Barcelona, Villarroel 170, 08036, Barcelona, Spain.
Background: The diagnosis of isolated REM sleep behavior disorder (IRBD) requires video polysomnography (V-PSG) showing increased muscle activity and abnormal behaviors in REM sleep.
Objective: To describe in IRBD the behavioral manifestations occurring during REM sleep in the diagnostic V-PSG.
Methods: This is a systematic audiovisual V-PSG analysis of consecutive IRBD patients.
J Neurol
January 2025
Imperial College London, Hammersmith Hospital, Hammersmith Campus, ICTEM Building, Ground Floor, Du Cane Road, London, W12 0NN, UK.
The psychological symptoms of Parkinson's disease (PD) worsen the quality of life of patients and their partners. However, these non-motor symptoms (mainly anxiety and depression) remain undiagnosed and undertreated in PD. Here, we report the benefits of a 12-week intervention using talking therapy (psychotherapy and counselling).
View Article and Find Full Text PDFJ Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
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