Neurological Sciences最新文献

Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options. The rarity of those conditions hampers both the identification of significant prognostic outcome measures, and the development of novel therapeutic approaches and clinical trials. Collection of objective clinical data through digital devices can support diagnosis, care, and therapeutic research. We provide an overview on recent developments in the field of digital tools applied to rare neurological diseases, both in the care setting and as providers of outcome measures in clinical trials in a representative subgroup of conditions, including ataxias, hereditary spastic paraplegias, motoneuron diseases and myopathies.

Introduction: The Expanded Disability Status Scale (EDSS) is usually calculated through a neurological examination with self-reported performance. This may lead to incorrect assessment of Functional System scores (FSs). Aim of our study was to estimate the difference between EDSS obtained during routine visits, or after specific tests.

Methods: We enrolled 670 MS patients that underwent a regular neurology consultation, and visual evaluation using optotype tables, ambulation evaluation with a rodometer, and cognitive assessment with the Brief International Cognitive assessment for MS (BICAMS). We calculated a new integrated EDSS (iEDSS) using the refined values of the FS and compared it to the standard EDSS.

Results: Visual, cerebral and ambulation FSs were significantly higher compared with the self-reported counterpart [+ 1.169 (95%CI 1.077, 1.262; p < 0.001), + 0.727 (95%CI 0.653, 0.801; p < 0.001) and + 0.822 (95%CI 0.705, 0.939; p < 0.001), respectively]. Mean iEDSS was higher than EDSS (+ 0.642; p < 0.001). Visual acuity tests worsened the EDSS in 31% of cases, cognitive tests in 10%, ambulation measurement in 35%, all three measurements in 59% of cases.

Conclusions: Objective measurement of FSs results in a more accurate EDSS score in almost two-thirds of cases. This could lead to a more thorough evaluation of patients in the transition or progressive phase.

Background: Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers.

Methods: We retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT).

Results: Both sNfL and small fiber related parameters significantly differed between carriers and patients (sNfL: p < 0.0001; IENFD: p = 0.0008; CDT, WDT: < 0.0001). sNFL levels were normal in all carriers, altered in 85% of patients, negatively correlated with distal IENFD (r = -0.47, p = 0.005), and significantly correlated with CDT (r = -0.68; p < 0.0001) and WDT (r = 0.57; p < 0.0001).

Conclusions: Our study showed that sNfL reliably discriminates symptomatic ATTRv-PN patients from pre-symptomatic carriers, and found significant relations between sNfL, skin biopsy, and QST small fiber related parameters, suggesting that sNfL might be a valuable biomarker of peripheral nerve involvement in ATTRv-PN and a supportive criterion for symptomatic disease transition.

Lower limb impairments are common consequences of stroke. Robotics and virtual reality (VR) play crucial roles in improving lower limb function post-stroke. This review aims to assess the effects of combined robot and VR interventions on lower limb functional ability poststroke and to provide recommendations for future studies in the rehabilitation field. PubMed, SCOPUS, CINAHL, MEDLINE, EMBASE, and Web of Science were searched from inception to March 1, 2024. Randomized controlled trials (RCTs) involving patients with a stroke, administering combined robot and VR compared with passive (i.e., rest) or active (any intervention), and including at least one outcome evaluating lower limb function (i.e., balance, gait, mobility, muscle tone, muscle strength, range of motion) or activities of daily living were selected. The Cochrane Collaboration tool was employed to evaluate the risk of bias in the included studies. Nine studies met the eligibility criteria. In total, 364 stroke survivors (Mean age 55.62 years) were involved in this review. According to the Cochrane Collaboration tool, five studies were classified as "high quality," "moderate quality" (n=3), and "low quality" (n=1). There are mixed findings on the effects of combined robot and VR on lower limb functional ability in stroke survivors. The evidence for the effects of combined robot and VR on lower limb functional ability post-stroke is promising. Further trials with long-term follow-up are strongly warranted to understand the immediate and long-term effect of combined robot and VR intervention on various lower limb impairments and to define the optimal treatment protocols.

Phantom Limb Syndrome (PLS) can be defined as the disabling or painful sensation of the presence of a body part that is no longer present after its amputation. Anatomical changes involved in Phantom Limb Syndrome, occurring at peripheral, spinal and brain levels and include the formation of neuromas and scars, dorsal horn sensitization and plasticity, short-term and long-term modifications at molecular and topographical levels. The molecular reorganization processes of Phantom Limb Syndrome include NMDA receptors hyperactivation in the dorsal horn of the spinal column leading to inflammatory mechanisms both at a peripheral and central level. At the brain level, a central role has been recognized for sodium channels, BDNF and adenosine triphosphate receptors. In the paper we discuss current available pharmacological options with a final overview on non-pharmacological options in the pipeline.

Background: The neurovascular conflict (NVC) causing hemifacial spasm (HFS) can also cause compression of ventrolateral medulla (VLM) which contains the central sympathetic neurons. VLM compression has been associated with hypertension. Whether the VLM compression in HFS patients is associated with hypertension is not clear.

Objective: To determine the frequency, severity of VLM compression and its association with hypertension in HFS patients.

Methods: A cross-sectional, hospital-based, case control study and recruited 120 study subjects (50 cases of primary HFS, 30 hypertensive and 40 normotensive age-, sex- matched controls). The VLM compression was assessed in magnetic resonance imaging Constructive Interference in Steady State (CISS) 3D sequences.

Results: Hypertension was present in 30 cases (60%). Six patients with HFS (20%) were detected to be hypertensive after the onset of HFS. VLM compression was seen in 24 cases (48%), 7 hypertensive controls (23.3%) and 5 normotensive controls (10%) (p = 0.03). Twenty-four patients with hypertension had VLM compression and remaining 6 patients with hypertension did not have VLM compression (80% vs 20%; p = 0.02). Normotensive patients did not have VLM compression. Vertebral artery was the most common artery causing VLM compression (22 patients; 7 hypertensive and 5 normotensive controls).

Conclusion: VLM compression is more common in HFS patients as compared to hypertensive and normotensive controls. It is more common in hypertensive HFS patients in comparison with normotensive HFS patients. Microvascular decompression is an option in hypertensive HFS patients with VLM compression if the hypertension is medically refractory.

Objective: The effects of antiseizure medications (ASMs) on cognitive functions have not been fully elucidated. The primary aim of this study was to demonstrate potential changes in cognitive functions in patients diagnosed with epilepsy from both neuropsychological and electrophysiological perspectives. Our secondary objective was to assess the effects of administered ASM on cognitive functions by categorizing patients into different monotherapy and polytherapy groups.

Materials and methods: A single-center, prospective patient registry study was conducted between May 2022 and June 2023. The inclusion criteria included epilepsy patients aged 18 to 50 years who were receiving ASM) treatment, either as inpatients or outpatients, and who did not have any syndromic diagnosis that may lead to cognitive disfunciton (such as primary progressive myoclonic epilepsies, Down syndrome and so on), and did not diagnosed previously or during examination that could affect dementia or cognitive functions. Patients who were scheduled to initiate new ASM treatment were evaluated using the Montreal Cognitive Assessment (MoCA) scale and Event-Related Potentials (ERP) assessment both before commencing treatment and three months thereafter.

Results: A total of 320 participants were included in the study; 20 healthy controls and 300 epilepsy patients were included. Statistically significant differences were observed between the healthy control group and the epilepsy group in terms of average Montreal Cognitive Assessment (MoCA) scores and event-related potentials (ERPs) (n200, p300 latencies, n2p3 amplitudes) (p<0.05). Similarly, statistically significant differences were observed between the monotherapy and polytherapy groups in terms of average MoCA and ERP scores (p<0.05).

Conclusion: This study demonstrated the detrimental effects of certain ASMs, particularly topiramate and carbamazepine, on cognitive functions. Furthermore, the negative impact on cognitive performance became more pronounced with an increasing number of concurrently used ASMs (polytherapy), with topiramate showing notable effects.

Introduction: Cerebral amyloid angiopathy-related inflammation (CAA-ri) derives from inflammatory response to β-amyloid (Aβ) protein deposition within the cerebral blood vessel walls. We report a case that accentuates those clinical and imaging features that can contribute to raise suspicion for the condition and lead to early treatment initiation.

Case presentation: A 72-year-old man was referred with one-month history of cognitive decline along with behavioral alterations. Brain MRI showed fluid attenuated inversion recovery (FLAIR) asymmetrical multifocal white matter hyperintensities (WMHs) along with multiple cerebral microbleeds (CMBs) and cortical superficial siderosis (cSS) on T2*-weighted gradient-recalled echo (T2*-GRE) images. Metabolic, infectious, and neoplastic causes were excluded, and subsequently corticosteroids were administered to the patient resulting in clinical recovery. Imaging on follow-up disclosed remission of WMHs, while CMBs load increased significantly.

Discussion: Clinical neurologists' acquaintance with the clinical and imaging features of CAA-ri allows prompt diagnosis and medication initiation, that is essential for a conceivably treatable condition.