Journal of the Neurological Sciences

INTRODUCTION: Corticobasal degeneration (CBD) is a clinically heterogeneous neurodegenerative disorder, for which pathological investigations are essential for a definitive diagnosis. This study explored the clinical characteristics of Japanese patients with pathologically confirmed CBD. METHODS: We reviewed the data of Japanese patients with pathologically confirmed CBD who were consecutively autopsied at our institute. Clinical data were obtained from medical records and clinicopathological conferences...

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative condition affecting upper and/or lower motor neurons and characterized neuropathologically by TDP-43 proteinopathy. Given its role in ALS pathobiology, it is currently under debate whether TDP-43 might represent a suitable ALS biomarker to be measured in patients' biofluids. The rs12608932 A > C single nucleotide polymorphism in the UNC13A gene is a risk factor for ALS and patients homozygous for the high-risk C allele display a higher burden of TDP-43 neuropathology than homozygotes for the low-risk A allele, although the association with TDP-43 levels in biofluids has never been evaluated...

A cluster of cases of amyotrophic lateral sclerosis (ALS) exists in the southern part of the Kii Peninsula in Japan. Although both genetic and environmental factors are thought to be causative, the critical cause of this cluster has not been identified. C9orf72 is the most common genetic factor in both familial and sporadic C9orf72-related ALS in people of European ancestry, but it is rare among Japanese populations. However, a previous report revealed that the frequency of C9orf72-related ALS was significantly higher in the cluster area...

No abstract text is available yet for this article.

BACKGROUND: Current epidemiological diagnostic criteria for hemorrhagic shock and encephalopathy syndrome (HSES) may not be optimal for early identification in clinical settings. We analyzed the specific timing at which Bacon's criteria were met after encephalopathy onset. METHODS: This retrospective observational study was conducted at the National Center for Child Health and Development, a quaternary-care facility that receives critically ill patients from a wide geographic area, between January 2014 and December 2023...

BACKGROUND: C9orf72 gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort. METHODS: Demographical and clinical data of MND patients with (C9RE+) and without C9RE were compared. ALS al Rating Scale-Revised (ALSFRS-R) and Edinburgh Cognitive and Behavioural ALS Screen (ECAS) were used to evaluate functional and cognitive performance, respectively...

BACKGROUND: Tissue plasminogen activator (tPA) is an effective treatment for acute ischemic stroke. Although initial improvement is observed when administered for branch atheromatous disease (BAD), some cases subsequently worsen. Clinical data on the characteristics of these patients is lacking, and the benefits of tPA are unclear. OBJECTIVE: To analyze rebound cases and elucidate the clinical characteristics and outcomes associated with tPA administration in BAD...

BACKGROUNDS AND OBJECTIVES: Severe hyposmia (SH) is a prodromal symptom of dementia associated with Parkinson's disease (PD) caused by Lewy bodies deposited in the limbic regions that connect the frontal and temporal lobes. We aimed to clarify the association between hyposmia and frontal lobe dysfunction (FLD) among patients with PD. METHODS: Patients with PD and Hoehn & Yahr stage 1-3 at on-periods without apparent dementia were screened. FLD was defined as a score of ≤14 on the Frontal Assessment Battery (FAB)...

The clinical and neuropathological characteristics of progressive supranuclear palsy (PSP) with preservation of levodopa (L-dopa) response are described in this report. We present the case of a 73-year-old Japanese man with a 13-year history of dopa-responsive Parkinsonism and abnormalities observed in metaiodobenzylguanidine (MIBG) myocardial scintigraphy, suggesting Parkinson's disease. However, autopsy results revealed PSP pathology, including tuft-shaped astrocytes and globose-type neurofibrillary tangles, without Lewy body pathology...

BACKGROUND: Proton pump inhibitors (PPIs), which inhibit gastric acid secretion, are frequently prescribed to patients with Parkinson's disease (PD). Levodopa, the gold-standard treatment for PD, demonstrates enhanced solubility in acidic environments. Although PPIs increase gastric pH and may affect levodopa absorption, the effect of concomitant PPI use on levodopa pharmacokinetics in patients with PD remains unknown. This study aimed to investigate the effect of the concomitant use of esomeprazole, a PPI, on the pharmacokinetics of levodopa and carbidopa and clinical symptoms in patients with PD...

We have read with a great deal of interest the article by Hwang et al. (1) and appreciate the authors'' commendable efforts. The article was intelligently written and provides a significant insight into the study carried out by the authors. We greatly acknowledge the brief concepts the authors have shared regarding Parkinson's disease and epilepsy, which are without doubt an asset to the field of neurology. The study has laid a good foundation for future related studies. The article mentions epilepsy as an uncommon comorbidity of Parkinson's disease and the transition of a non-epilepsy brain to an epilepsy brain...

Congenital Zika syndrome (CZS) comprises a set of clinical manifestations that can be presented by neonates born to mothers infected by the Zika virus (ZIKV). CZS-associated phenotypes include neurological, skeletal, and systemic alterations and long-term developmental sequelae. One of the most frequently reported clinical conditions is microcephaly characterized by a reduction in head circumference and cognitive complications. Nevertheless, the associations among the diverse signaling pathways underlying CZS phenotypes remain to be elucidated...

BACKGROUND AND OBJECTIVES: In 2024, the sequalae of the acute phase of coronavirus disease-19 (COVID-19) infection, which include neurological symptoms and are commonly referred to as long COVID or post-acute sequelae of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (PASC), continue to be a substantial health concern; however, similar symptoms are observed in individuals with no previous COVID-19 infection. METHODS: This was a single-center, retrospective, descriptive case series study...

No abstract text is available yet for this article.

Parkinson's disease (PD) is a neurodegenerative disorder resulting from the loss of dopamine-producing neurons in the brain, causing motor symptoms like tremors and stiffness. Although current treatments like medication and deep brain stimulation can alleviate symptoms, they don't address the root cause of neuron loss. Therefore, cell replacement therapy emerges as a promising treatment strategy. However, the generation of engraftable dopaminergic (DA) cells in clinically relevant quantities is still a challenge...

PURPOSE: Infantile epileptic spasms syndrome (IESS) with epileptic spasms as the main seizure type, is treated with adrenocorticotropic hormone (ACTH). This study, for the first time, examines the effects of epileptic spasms and ACTH on blood-brain barrier (BBB) permeability in patients with IESS of unknown etiology. METHODS: We prospectively evaluated the changes in BBB permeability in patients with IESS of unknown etiology at the Saitama Children's Medical Center between February 2012 and February 2024...

This post-hoc analysis of the PERMIT Extension study compared the effectiveness and safety/tolerability of perampanel (PER) between Asian and non-Asian participants. Retention rates, adverse events (AEs), seizure frequency, responder rate (≥50% seizure frequency reduction), and seizure freedom rate (no seizures since at least the prior visit) were assessed. Retention was assessed after 3, 6 and 12 months. Effectiveness assessments were evaluated at 3, 6 and 12 months and the last visit by seizure type (total, focal and generalised)...

OBJECTIVE: Electrocardiogram (ECG) is essential for evaluating the autonomic nervous system. Ensuring the quality of real-world ECG datasets is critical, but manual control of large datasets is impractical. Thus, automated quality control is necessary. This paper introduces a new quality index, the peak-distance quality index (PDQI), based on the modulation spectrum approach. METHODS: Real-life data from 1000 ECG recordings, each 600 s long, were collected at the stroke unit of the University Hospital Tulln...

INTRODUCTION: People living with HIV (PLWH) are at increased risk for cardiovascular disease. Carotid intima media thickness (cIMT) is a validated surrogate marker of atherosclerosis, and an accurate predictor of future cardiovascular events. It is uncertain whether HIV potentiates stroke risk through atherosclerosis in Sub-Saharan Africa and what effect HIV status has on cIMT. We sought to investigate the relationship between HIV status and cIMT in stroke patients in a region that is burdened with dual epidemics of HIV and stroke in the young...

OBJECTIVES: This study aimed to clarify the relationship between 43-kDa TAR DNA-binding protein (TDP-43) pathology and spinal cord anterior horn motor neuron (AHMN) atrophy in sporadic amyotrophic lateral sclerosis (SALS). METHODS: Eight patients with SALS and 12 controls were included in this study. Formalin-fixed specimens of lumbar spinal cord samples were paraffin-embedded and sectioned at the level of the fourth lumbar spinal cord with a 4 μm thickness...