Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study.

Background: Transient receptor potential cation channel subfamily V member 2 (TRPV2) functions as a stretch-sensitive calcium channel, with overexpression in the sarcolemma of skeletal and cardiac myocytes leading to detrimental calcium influx and triggering muscle degeneration. In our previous pilot study, we showed that tranilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two patients with muscular dystrophy and advanced heart failure. Building on this, we performed a single-arm, open-label, multicenter study herein to evaluate the safety and efficacy of tranilast in the treatment of advanced heart failure in patients with muscular dystrophy.

Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.

Destructive spondyloarthropathy of the lumbar spine in patients on long-term haemodialysis: a computed tomography-based study.

Purpose: Destructive spondyloarthropathy (DSA) is a serious complication of long-term haemodialysis; it commonly occurs in the cervical spine and has been investigated in cervical lesions. Although DSA of the lumbar spine has been reported, only few studies have investigated this, and the characteristics of patients with lumbar DSA are unclear. The present study aimed to elucidate the prevalence of DSA and its clinical characteristics in patients with DSA in the lumbar spine using computed tomography (CT) images of the patients who underwent lumbar spine surgery.

Buckling of the Ligamentum Flavum in Patients with Lumbar Spinal Canal Stenosis.

Study Design: Experimental study.

Objective: We sought to elucidate the association between ligamentum flavum thickening and tissue buckling, and the clinical and imaging factors related to buckling by comparing the ligamentum flavum thickness on MRI images and within the actual tissue.

Summary Of Background Data: Ligamentum flavum thickening is a main contributor to lumbar spinal canal stenosis.

Dysregulation of SNX1-retromer axis in pharmacogenetic models of Parkinson's disease.

Since the identification of vacuolar protein sorting (VPS) 35, as a causative molecule for familial Parkinson's disease (PD), retromer-mediated endosomal machinery has been a rising factor in the pathogenesis of the disease. The retromer complex cooperates with sorting nexin (SNX) dimer and DNAJC13, another causal molecule in PD, to transport cargoes from endosomes to the trans-Golgi network, and is also involved in mitochondrial dynamics and autophagy. Retromer dysfunction may induce neuronal death leading to PD via several biological cascades, including misfolded, insoluble α-synuclein (aS) accumulation and mitochondrial dysfunction; however, the detailed mechanisms remain poorly understood.

Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.

Background: DYT-KMT2B, also known as DYT28, is a childhood-onset hereditary dystonia caused by KMT2B mutation. The pathogenesis of DYT-KMT2B involves haploinsufficiency of KMT2B, an enzyme that catalyzes specific histone methylation (H3K4me3). Dysmorphic features in patients with DYT-KMT2B suggest that KMT2B dysfunction may extend beyond the neuronal system.

FABP2 is Involved in Intestinal α-Synuclein Pathologies.

Background: Recently, the hypothesis that pathological α-Synuclein propagates from the gut to the brain has gained attention. Although results from animal studies support this hypothesis, the specific mechanism remains unclear. This study focused on the intestinal fatty acid-binding protein (FABP2), which is one of the subtypes of fatty acid binding proteins localizing in the gut, with the hypothesis that FABP2 is involved in the gut-to-brain propagation of α-synuclein.

Comparative Gene-Expression Analysis of the Ligamentum Flavum of Patients with Lumbar Spinal Canal Stenosis: Comparison between the Dural and Dorsal Sides of the Thickened Ligamentum Flavum.

Thickening of the ligamentum flavum is the main factor in the development of lumbar spinal canal stenosis (LSCS). Although previous studies have reported factors related to ligamentum flavum thickening, its etiology has not been clarified. Furthermore, it is often difficult to set proper controls to investigate the pathologies of thickening due to differences in patient characteristics, such as age, sex, obesity, and comorbidities.

[Dementia with Lewy bodies and Parkinson disease dementia, their diagnoses and treatment strategies].

Parkinson's disease (PD), which has characteristic motor symptoms such as tremor, muscle rigidity, and akinesia, and as the disease progresses, Lewy bodies spread throughout the brain, eventually causing Parkinson disease dementia (PDD). The clinical picture of PDD is similar to Dementia with Lewy bodies (DLB) and their pathological features are indistinguishable from each other. More than 80% of PD cases will eventually develop dementia and their prognosis are generally 3 to 4 years from the onset of dementia, regardless of disease duration or age of onset.

Alpha-synuclein promotes PRMT5-mediated H4R3me2s histone methylation by interacting with the BAF complex.

α-Synuclein (αS) is a key molecule in the pathomechanism of Parkinson's disease. Most studies on αS to date have focused on its function in the neuronal cytosol, but its action in the nucleus has also been postulated. Indeed, several lines of evidence indicate that overexpressed αS leads to epigenomic alterations.

Are T1-Weighted Three-Dimensional Magnetic Resonance Images Inferior to T2-Weighted Images for Diagnosing Lumbar Foraminal Stenosis in the Fifth Lumbar Nerve Root? A Prospective, Comparative Study in Identical Patients.

Introduction: Imaging analysis of foraminal stenosis in the fifth lumbar (L5) nerve root remains to be a challenge because of the anatomical complexity of the lumbosacral transition. T2-weighted three-dimensional (3D) magnetic resonance images (MRI) have been dominantly used for diagnosis of lumbar foraminal stenosis, while the reliability of T1-weighted images (WI) has also been proven. In this study, we aim to compare the reliability and reproducibility of T1- and T2-weighted 3D MRI in diagnosing lumbar foraminal stenosis (LFS) of the L5 nerve root.

Levodopa Prescription Patterns in Patients with Advanced Parkinson's Disease: A Japanese Database Analysis.

Prescription doses of levodopa in patients with advanced Parkinson's disease (PD) are generally lower in Japan than in the United States or Europe, although Japanese guidelines for the management of PD recommend increasing the dosage as the disease progresses. However, data regarding levodopa prescription practices in patients with advanced PD in the clinical setting are limited. This retrospective observational study analyzed patterns of drug use for patients with advanced PD in Japan using claims data from hospitalized patients in the Medical Data Vision Co.

Using Fatty Acid-Binding Proteins as Potential Biomarkers to Discriminate between Parkinson's Disease and Dementia with Lewy Bodies: Exploration of a Novel Technique.

An increase in the global aging population is leading to an increase in age-related conditions such as dementia and movement disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), and dementia with Lewy bodies (DLB). The accurate prediction of risk factors associated with these disorders is crucial for early diagnosis and prevention. Biomarkers play a significant role in diagnosing and monitoring diseases.

The necessity to improve disaster preparedness among patients with amyotrophic lateral sclerosis and their families.

Disaster preparation is an important issue for patients with amyotrophic lateral sclerosis (ALS). However, to the best of our knowledge, no studies have investigated disaster preparedness among patients with ALS. In this study, we aimed to investigate disaster preparation in patients with ALS and their caregivers, including their families, in Japan.

Nuclear Imaging Data-Driven Classification of Parkinson's Disease.

Background: Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder characterized by motor and nonmotor symptoms. Several features have prognostic importance and have been used as key indicators for identifying clinical subtypes. However, the symptom-based classification approach has limitations with respect to the stability of the obtained subtypes.

A Case of Corticobasal Syndrome and Posterior Cortical Atrophy With Biomarkers of Alzheimer Disease.

Corticobasal syndrome is a clinical entity characterized by asymmetric akinetic rigidity and a variety of higher cortical dysfunction. Predicting background pathology of corticobasal syndrome is rather challenging; however, clinical and neuroimaging findings may provide a clue to its etiopathological origin. Visuospatial dysfunction of posterior cortical atrophy and logopenic-type language impairment indicate the presence of Alzheimer's disease-related pathology, and they provide useful information in distinguishing Alzheimer's disease from other types of corticobasal syndrome.

[How Useful is an Olfactory Test for Diagnosing Alzheimer's Syndrome?].

Olfactory dysfunction is closely associated with cognitive dysfunction, and it is a known risk factor for the development of dementia. However, pathological studies revealed it to be more closely associated with the degree of Lewy body pathology than with the severity of pathological changes in Alzheimer's. Notably, more than half the patients with clinically diagnosed Alzheimer's dementia have accompanying Lewy body pathology, and olfactory loss may serve as an important symptom for suggesting its presence and enabling its detection.

Behavioral and neural correlates of pareidolic illusions in dementia with Lewy bodies.

Introduction: Pareidolia, a form of visual illusions phenomenologically similar to complex visual hallucinations, is a phenomenon that is associated with visual hallucinations in dementia with Lewy bodies (DLB). This study aimed to identify commonalities and differences in behavioral and neural correlates between pareidolic illusions and visual hallucinations in DLB.

Methods: Forty-three patients with DLB underwent the scene pareidolia test, which evokes and measures pareidolic illusions, and standardized neuropsychological and behavioral assessments.

Associations of Dental Health With the Progression of Hippocampal Atrophy in Community-Dwelling Individuals: The Ohasama Study.

Background And Objectives: Although tooth loss and periodontitis have been considered risk factors of Alzheimer disease, recent longitudinal researches have not found a significant association with hippocampal atrophy. Therefore, this study aimed to clarify a longitudinal association between the number of teeth present (NTP) and hippocampal atrophy dependent on the severity of periodontitis in a late middle-aged and older adult population.

Methods: This study included community-dwelling individuals aged 55 years or older who had no cognitive decline and had undergone brain MRI and oral and systemic data collection twice at 4-year intervals.