Neurodegenerative disease management最新文献

Aim: To evaluate the effects of isokinetic hamstring and quadriceps muscle (IHGM)-strengthening and home exercises on balance, proprioception, fear of falling (FoF), kinesiophobia, and quality of life in persons with multiple sclerosis (PwMS).

Methods: The peak torque/body mass of the IHGMs, the absolute angular error (AAE) and mean AAE of the less and more affected legs, and the scores of the Dynamic Gait Index, 10-meter walk test, Berg Balance Scale (BBS), Modified Falls Efficacy Scale, Multiple Sclerosis Quality of Life-54 (MSQoL-54), Visual Analog Scale, and Tampa Scale of Kinesiophobia-17 (TSK-17) were evaluated before and after the training programs.

Results: Isokinetic exercises resulted in significantly higher improvements in the BBS (p = 0.008) and MSQoL-54 physical (p = 0.006) scores and the quadriceps muscle strength at 180°/s angular velocity in the less affected leg (p = 0.001) compared to home exercises.

Conclusions: Isokinetic exercises can improve muscle strength, QoL, and balance in PwMS without complications or exacerbations.

Hereditary transthyretin amyloidosis is a progressive life-threatening disease characterized by deposition of abnormally folded amyloid fibrils into tissues leading to polyneuropathy and cardiomyopathy. Eplontersen, an antisense oligonucleotide has been FDA approved for the treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States. Eplontersen inhibits the translation of both variant and wildtype transthyretin in the liver, thereby preventing deposition in tissues. In the pivotal Phase III NEURO-TTRansform trial, Eplontersen significantly lowered serum transthyretin concentrations, improving neuropathic impairment and quality of life. Eplontersen was generally well tolerated in the treatment group, with the primary safety effects not significantly different from the control group. Eplontersen is suitable for long term use in patients with disease related polyneuropathy and is currently being studied for use in patients with cardiomyopathy. In this review, we discuss the clinical efficacy, mechanism of action, pharmacology, tolerability, and social determinants of health affecting the use of Eplontersen.

Introduction: Amyotrophic lateral sclerosis (ALS) is a rare motor neuron disease. There is no effective treatment, but disease-modifying therapies do exist. Objective. To identify the geographical distribution of ALS-related genes.

Methods: A systematic review was conducted according to the PRISMA 2020 guidelines in PubMed and Web of Science. Inclusion criteria: patients with ALS, no age or gender restriction, English and Spanish languages, studies published until 31 July 2025.

Results: Thirty-eight results were obtained, 32 were selected, 19 articles were assessed for eligibility, and 8 articles were included from databases. Three articles recommended by clinical experts were added, so 11 results were reviewed. This research showed that published articles on the geographic distribution of ALS-related genes are limited, particularly for underrepresented regions such as Africa.

Conclusion: The findings demonstrate the need for intensified international research to improve knowledge of the genetic epidemiology of ALS.

Background: Alzheimer's disease is a neurodegenerative condition characterized by memory deficits and cognitive decline. Ivermectin, an antiparasitic agent, has shown neuroprotective effects. The present study was conducted to determine the protective effects of ivermectin in a streptozocin-induced Alzheimer's model in rats.

Methods: Alzheimer's model was induced by bilateral intracerebroventricular injection of streptozocin (3 mg/kg BW, 2 doses). Ivermectin was administered intraperitoneally at a dose of 2 mg/kg. On day 19, after behavioral memory and learning tests, the samples were collected for histological and enzymatic studies.

Results: Ivermectin reduced the histopathological changes, including pyknotic and dead neurons and the accumulation of Aβ plaques. Ivermectin administration also reduced serum (p < 0.0001) and brain tissue (p < 0.01) acetylcholinesterase activity as well as improved learning (p < 0.05) and spatial memory (p < 0.0001).

Conclusions: Ivermectin demonstrates protective effects in the STZ-induced Alzheimer's model by reducing pathological changes and Aβ plaques, acetylcholinesterase activity, as well as improving memory and learning.

Aims: Catecholamine analysis and studies to modulate dopamine and norepinephrine in dementia have had contradictory results. We aimed to analyze the cerebrospinal fluid (CSF) levels of L-DOPA, dopamine, and norepinephrine of patients with Alzheimer's disease (AD), frontotemporal dementia (FTD) and normal controls (NC), and their relationship with clinical variables.

Patients and methods: Cross-sectional, observational study, to analyze CSF L-DOPA, dopamine, and norepinephrine levels in 35 patients with AD, 16 with FTD, and 38 NC.

Results: L-DOPA was significantly lower in AD than NC (AD vs NC p = 0.039, DFT vs NC p = 0.052, DFT vs DA p = 1.00). Norepinephrine was positively correlated with age (r = 0.343, p = 0.035). Dopamine was higher in participants under antidepressive medication (p = 0.022among all participants; p = 0.046 in NC).

Conclusion: This is the first study reporting lower CSF L-DOPA levels in AD. Similar norepinephrine levels despite locus coeruleus neurons loss in AD point to compensatory mechanisms that could exacerbate L-DOPA deficiency.

Huntington's disease (HD) is an autosomal, progressive, dominant inherited neurological disorder characterized by motor dysfunction, cognitive decline, and psychiatric symptoms. HD is caused by abnormal expansion of trinucleotide CAG in exon1 of the Huntington gene and the accumulation of mutant huntingtin (mHTT) fragments, which leads to neurotoxicity mainly in the brain's cortex region. This review aimed to collect current research on developing effective treatment strategies, including small-molecule approaches, gene therapies, and protein degradation techniques to reduce the mHTT levels. We further discuss various therapeutic strategies, including CRISPR-based approaches and small-molecule targeted protein degradation. Additionally, the potential of VTX-003 and ANX005 in mitigating disease progression is explored. Despite these promising therapies, challenges persist, particularly in long-term assessment, delivery strategy, and off-target effects. Considering the future landscape and need, the review has strengthened the need of therapeutic interventions to enhance efficacy and safety, ultimately improving the quality of life of HD patients.

Oxidative stress (OS) plays a central role in age-related cognitive decline and neurodegeneration and is increasingly recognized as a key factor in the pathogenesis of Alzheimer's disease (AD) and Parkinson's disease (PD). Elevated OS biomarkers are detectable from the earliest stages of these disorders. In this critical narrative review, we explore the bioenergetic cascade underlying neurodegeneration, emphasizing pathophysiological alterations, mechanisms, and therapeutic targets. Recent evidence suggests that OS and impaired cellular energy dynamics are both early markers and downstream effects of neuroinflammation, contributing to symptom severity and reduced treatment efficacy. A deeper understanding of these interrelated processes is essential for the development of more effective interventions. Monitoring OS-related metabolites may offer a promising strategy for identifying therapeutic targets and enabling early clinical intervention, ultimately aiming to reduce neuroinflammation and improve patient outcomes in AD and PD.

Aims: The purpose of this review is to identify the characteristics of responders in interventions targeting motor function for individuals with Parkinson disease.

Materials & methods: The primary search included, 'Parkinson' + 'responder.' A second, broader, search further included 'response' + 'responsiveness' + 'responsive.' Records were sorted by intervention: neuromodulation, pharmaceutical, physical, and placebo.

Results: Thirteen studies were identified in the primary and 19 studies in the secondary search, culminating in 120 characteristics. For neuromodulation interventions, responders were younger at onset, more responsive to levodopa, and had more difficulties with activities of daily living. Responders to pharmaceuticals were younger at diagnosis. Physical intervention responders had worse balance, less balance confidence, and worse cognition. No relevant characteristics were identified for placebo interventions.

Conclusions: Although there are clear limitations and gaps in the literature, responder analyses represent an important step toward more personalized treatments for the motor symptoms of Parkinson disease.