NEUROLOGICAL SCIENCES

CT perfusion in the acute setting: a useful tool in the differential diagnosis of aphasic syndromes
Furlanis G, Vincis E, Ricci E, Ajčević M, Palacino F, Farina G, Prandin G, Mancinelli L, Quagliotto M, Menichelli A, Potente P, Maset M, Caruso P, Naccarato M, Ukmar M and Manganotti P
Acute-onset aphasia is a common condition in ischemic stroke but it can also occur in other conditions defined as stroke mimics (SM). CT perfusion (CTP) is a radiological tool employed during the "stroke code" but its role in differentiating patients with stroke from those with SM is still under investigation. We aimed to evaluate the role of CTP in the differential diagnosis between stroke-related aphasia and SM-related aphasia in the acute setting.
The cerebellum beyond motor control: cognitive dysfunction in spinocerebellar ataxias
Vieira AA, Tenório RB, Handam AC, Teive HAG and Camargo CHF
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders primarily characterized by progressive ataxia due to degeneration of the cerebellum and its afferent and efferent pathways. Although cerebellar motor symptoms are the clinical hallmark, considerable phenotypic variability exists across SCA subtypes and among individuals with the same genetic mutation. Depending on the subtype and the extent of cerebellar and extracerebellar involvement, various cognitive domains-including memory, attention, executive function, and language-may also be affected. Notably, the cognitive and limbic functions of the cerebellum are primarily localized to its posterior lobe, where current evidence supports distinct topographic representations. The growing body of literature highlights that cognitive impairment is a prominent and heterogeneous feature of SCAs, with wide variation in severity, affected domains, and progression depending on the underlying genetic subtype.
Adult spinal cord diffuse midline gliomas with piloid features have a better prognosis
Yao J, Zhao B, Chen J, Luo W and Yin H
Diffuse midline gliomas of the spinal cord (DMG-SCs) are high-grade, WHO grade 4 gliomas typically associated with a poor prognosis. However, some patients experienced extended survival. We reviewed 43 DMG-SC cases with H3K27M expression and observed that 5 patients with prolonged survival who had Rosenthal fibers and eosinophilic granular bodies in their tumors. These 5 patients (4 males, 1 female, aged 33-64 years, median 53.4) all had thoracic spinal cord tumors. Histologically, the tumors were classified as either low or high-grade gliomas. FAT2 and NF1 were the most common genetic alterations. Notably, these patients had longer preoperative courses and survival times (36 and 25 months, respectively). DNA methylation clustering analysis results show that the five lesions are distributed within the same range. One case is clearly classified as DMG, while others have insufficient calibrated scores. Based on these results, we speculate that DMG-SCs with piloid features may represent a unique subtype with a more favorable prognosis.
Repetitive transcranial magnetic stimulation for cognitive and emotional symptoms in neurodegenerative diseases: a systematic review and dose-response meta-analysis
Zhang Y, Liu S, Xu K, Shen Y, Liu Z, Wang Y, Bai Y and Wang S
We summarized the existing clinical evidence of repetitive transcranial magnetic stimulation (rTMS) for cognitive and emotional symptoms in Parkinson's disease (PD) and alzheimer's disease (AD), and conducted a series of dose-response meta-analyses to determine the magnitude and curve relationship between pulse quantity changes and treatment effect sizes.
Efficacy and safety of stereotactic radiosurgery versus whole brain radiotherapy for the treatment of brain metastasis: a systematic review and meta-analysis
Mohamed SF, Singer ED, Youssef A, Farouk HM, Elmallahy M, Ghaith HS, Negida A and Moursi A
Whole-brain radiotherapy (WBRT) has traditionally been the primary treatment for most patients with brain metastases despite its adverse effects on overall health. Recently, stereotactic radiosurgery (SRS) has emerged as a safe and effective alternative. However, the data comparing the efficacy and safety of SRS and WBRT remain inconsistent. To address this, we conducted a systematic review and meta-analysis to synthesize evidence from all published studies comparing SRS and WBRT for patients with brain metastases.
Subcortical band heterotopia: electroclinical, radiological, and prognostic features in adults
Cakar MM, Ozum-Irmak T, Karli-Oguz K, Saygi S and Tezer-Filik FI
Subcortical band heterotopia (SBH) is a neuronal migration disorder within the agyria-pachygyria spectrum, ranging from subtle thin bands to diffuse lissencephaly. Adult presentations and prognostic factors remain poorly defined.
Investigating the impact of white matter hyperintensities on longitudinal progression in progressive supranuclear palsy
Tepedino MF, Diana F, Avallone AR, Pellecchia MT, Cuoco S, Aiello M, Manara R, Barone P and Picillo M
White matter hyperintensities (WMH), traditionally linked to cerebral small vessel disease, are frequent in Progressive Supranuclear Palsy (PSP). This study assessed their prognostic value in disease progression.
Towards effective interventions: scoping review on prevention and modifiable risk factors of neurodegenerative diseases
Veloso-Luis A, Diaconu S, Mendes M and Ferreira JJ
Life expectancy is increasing with help of modern medicine, but well-being is not always guaranteed for elderly, especially when affected by diseases that hinder autonomy and to which there is still no cure. Amongst late-life related diseases are those affecting cognition, such as dementias and Alzheimer's Disease, which occurrence has been reported as one of the top Global Burden of Disease with prospective exponential growth for the next 30 years. Other reasons for dependency of elderly are health conditions affecting movement. Some of these are associated with neurodegenerative diseases (NDD), such as Parkinson's Disease, whose rise in prevalence is equally concerning and attending a pandemic status.
Safety and effectiveness of Co-careldopa for motor recovery in post-stroke patients: A Systematic Review
Younas A, Qadri M, Noor R, Pirzada L, Khan T, Anwar M, Shahid I, Raja HAA, Munir A, Sathian B and Iqbal J
Stroke remains a major global contributor to long-term disability, with motor impairments being among the most debilitating outcomes. Co-careldopa, a combination of levodopa and carbidopa, has been proposed as an adjunct to physiotherapy to enhance motor recovery. However, its clinical efficacy and safety profile are still under investigation. This systematic review evaluates the therapeutic potential and tolerability of co-careldopa in post-stroke motor rehabilitation.
Relationship between remnant cholesterol inflammatory index and clinical outcome in ischemic stroke patients treated with endovascular thrombectomy
E Y, Qi J, Chen S, Huang Z, Wei B, Xie Y and Wang Q
Growing evidence indicates that the remnant cholesterol inflammatory index (RCII) is significantly involved in the pathogenesis of ischemic stroke. In this study, we investigated whether RCII levels are associated with clinical outcomes in large vessel occlusive stroke patients receiving endovascular thrombectomy (EVT) treatment.
Monoclonal antibodies for early Alzheimer disease: a long road to discovery and marketing approval, a short timeline for health systems to organise services
Cagnin A, Benussi A, Marra C, Bonanni L, Bozzali M and
Is gaitrite system sensitive in discriminating gait pattern of subjects affected by Charcot Marie tooth? A pilot study
Schenone C, Lagostina M, Ponzano M, Avanti C, Contenti C, Hamedani M, Grandis M, Gemelli C, Massucco S, Marinelli L, Roveta E, Schenone A, Trompetto C and Laura M
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, characterized by progressive distal muscle weakness and gait abnormalities, impacting patients mobility and quality of life. Despite efforts to develop effective treatments, pharmacological options remain limited. Evaluation of gait function is crucial for assessing disease progression and treatment efficacy.
The effect of exercise on the improvement of verbal fluency, spatial working memory, and the three major executive functions in elderly alzheimer's patients: a systematic review and meta-analysis
Liu X and Casasola JCES
To evaluate the effects of exercise on verbal fluency (VF), spatial working memory (SWM), and executive functions (EF) in older adults with Alzheimer's disease (AD).
Sudden onset of arm movements in a diabetic patient
Kına HM, Ziroğlu Z and Güler SK
Telephone-based cognitive screening in neurodegenerative MCI and dementia: preliminary findings from the TBCS Study
Aiello EN, Curti B, De Luca G, Moreschi A, Crispiatico V, Maranzano A, Menichelli A, Cattaruzza T, Manganotti P, Silani V, Ticozzi N, Verde F and Poletti B
This study aimed to provide preliminary information on the clinical usability of a set of Italian telephone-based cognitive screening (TBCS) tests in patients with neurodegenerative MCI and dementia.
Health effects of loss of function variants in gene targets for Alzheimer's disease prevention
Ma Y, Zhang A, Asri S and Curtis D
Treatments for Alzheimer’s disease (AD) have to date met with limited success but potentially promising approaches involve attempting to reduce expression of one of the genes coding for key proteins involved in AD pathogenesis. Potential targets for such interventions include , and but there is little published evidence to help assess whether reducing expression of one of these genes might cause adverse effects. We investigated 470,000 exome-sequenced UK Biobank participants to identify those carrying a naturally occurring loss of function (LOF) variant in these genes to see if they had impaired general health or educational attainment. For we additionally tested for association with hyperlipidaemia and for and we tested for associations with mental health and epilepsy. For , and there were respectively 56, 118 and 333 carriers of LOF variants. For each gene, there was no association between carrying a LOF variant and any of the phenotypes tested and for some phenotypes confidence intervals of effect size were small, ruling out any large effect. The findings provide some reassurance that interventions aimed at reducing expression of one of these genes may not necessarily be associated with significant adverse effects, though the small number of phenotypes examined means we cannot be confident that such treatments would be completely safe. Since LOF variants are very rare, further investigation of the effects of reduced gene expression can be undertaken within the context of clinical trials. This research has been conducted using the UK Biobank Resource.
Does retinal vascular occlusion increase the risk of dementia? A pioneering systematic review and meta-analysis
Chen KY, Chan HC and Chan CM
Retinal vascular occlusion (RVO), a common eye condition, has been hypothesized as a potential indicator of neurodegenerative risk. This systematic review and meta-analysis aimed to quantitatively assess the association between RVO and the subsequent development of dementia.
Deep transcranial magnetic stimulation in progressive supranuclear palsy: a randomized double-blind, cross-over study
Radicati FG, Vacca L, Casali M, Tremigliozzi I, Alborghetti M, Lombardi M, Rossini PM and Stocchi F
Progressive supranuclear palsy (PSP) is a rare neuro-degenerative disease. The Deep Transcranial Magnetic Stimulation (DTMS) has been proposed as a therapeutic approach in Parkinson's Disease but there are few studies that have evaluated its efficacy in PSP.
A unique imaging sign: tiny cysts across the brain and spine
Gocmen R and Kazazi R
Diffuse Leptomeningeal Glioneuronal Tumor (DLGNT) is a rare neoplasm in children with variable clinical and radiological features, often leading to diagnostic delays.We present the case of a 3-year-old boy with tonic-clonic seizures and gait disturbance. Brain and spine MRI revealed widespread, non-enhancing, cystic lesions along the cerebral sulci and subarachnoid space. Biopsy confirmed the diagnosis of DLGNT. This case demonstrates a unique radiological presentation of DLGNT as diffuse, non-enhancing cystic lesions. Recognizing this unique imaging pattern is crucial for early diagnosis, especially in pediatric patients.
Susac syndrome - different treatment approaches for one disease (analysis of case series)
Grygiel-Górniak B, Joks MM, Mazurkiewicz Ł and Samborski W
Susac syndrome is a rare, autoimmune, occlusive endotheliopathy that affects blood vessels in the central nervous system (CNS), retina, and inner ear. At initial medical evaluation, the classic triad of symptoms is present in less than one-third of patients, making diagnosis challenging.
BIOMARKERS IN NEUROLOGY