Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.

Lysosomal associated membrane protein 2 (LAMP2) is physiologically implicated in autophagy. A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. In addition, arteriopathy may manifest on rare occasions but the pathological basis remains unknown.

Right prefrontal cortex specialization for visuospatial working memory and developmental alterations in prefrontal cortex recruitment in school-age children.

Objective: The right prefrontal cortex (PFC) plays an essential role in active processing within visuospatial working memory (VSWM). The aim of this study was to examine developmental changes in the recruitment patterns of the PFC during visuospatial memory tasks in school-age participants.

Methods: We recruited 80 school-age children who were classified into three age groups: 7- to 8-year-old, 9- to 10-year-old, and 11- to 12-year-old children.

Inequity aversion is observed in common marmosets but not in marmoset models of autism induced by prenatal exposure to valproic acid.

Humans and various nonhuman primates respond negatively to inequity not in their favor (i.e., inequity aversion), when inequity between two individuals is introduced.

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1-year-old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra, medial thalamic nuclei, and basal nuclei, as well as cavities in the cerebral white matter and corpus callosum.

Glycosphingolipid metabolic reprogramming drives neural differentiation.

Neural development is accomplished by differentiation events leading to metabolic reprogramming. Glycosphingolipid metabolism is reprogrammed during neural development with a switch from globo- to ganglio-series glycosphingolipid production. Failure to execute this glycosphingolipid switch leads to neurodevelopmental disorders in humans, indicating that glycosphingolipids are key players in this process.

Intractable epilepsy due to a rosette-forming glioneuronal tumor with a dysembryoplastic neuroepithelial background.

A rosette-forming glioneuronal tumor (RGNT) was initially reported as an infratentorial tumor that comprised both small neurocytic rosettes and astrocytic components. However, a few studies have reported supratentorial RGNTs arising in the cerebral hemispheres. Here, we report an unusual case involving a 9-year-old boy with a supratentorial RGNT who presented with intractable epilepsy and behavioral changes.

The promoter-driven CD63-GFP transgenic rat model allows tracking of neural stem cell-derived extracellular vesicles.

Extracellular vesicles (EVs) can modulate microenvironments by transferring biomolecules, including RNAs and proteins derived from releasing cells, to target cells. To understand the molecular mechanisms maintaining the neural stem cell (NSC) niche through EVs, a new transgenic (Tg) rat strain that can release human CD63-GFP-expressing EVs from the NSCs was established. Human CD63-GFP expression was controlled under the rat promoter (Sox2/human CD63-GFP), and it was expressed in undifferentiated fetal brains.

Development and Validation of a Japanese Fidelity Scale for Supported Employment.

The Individual Placement and Support (IPS) model of supported employment is an evidence based practice. Although several agencies have been trying to implement the IPS-model since 2005 in Japan, there was no tool to assess the quality. This study developed a Japanese version of the 25-item Individualized Supported Employment Fidelity Scale (J-ISEF), a new Japanese fidelity tool for supported employment based on the IPS model.

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

Introduction: Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms.

Case Presentation: Our patient was a 20-year-old man with DMD who had been receiving noninvasive positive-pressure ventilation during the night.

Actions of Brain-Derived Neurotrophic Factor and Glucocorticoid Stress in Neurogenesis.

Altered neurogenesis is suggested to be involved in the onset of brain diseases, including mental disorders and neurodegenerative diseases. Neurotrophic factors are well known for their positive effects on the proliferation/differentiation of both embryonic and adult neural stem/progenitor cells (NSCs/NPCs). Especially, brain-derived neurotrophic factor (BDNF) has been extensively investigated because of its roles in the differentiation/maturation of NSCs/NPCs.

Re-evaluation of soluble APP-α and APP-β in cerebrospinal fluid as potential biomarkers for early diagnosis of dementia disorders.

Background: Because soluble (or secreted) amyloid precursor protein-β (sAPPβ) and -α (sAPPα) possibly reflect pathological features of Alzheimer's disease (AD), they are potential biomarker candidates for dementia disorders, including AD and mild cognitive impairment (MCI) due to AD (MCI-AD). However, controversial results have been reported regarding their alterations in the cerebrospinal fluid (CSF) of AD and MCI-AD patients. In this study, we re-assessed the utility of sAPPα and sAPPβ in CSF as diagnostic biomarkers of dementia disorders.

Rotigotine, a dopamine receptor agonist, increased BDNF protein levels in the rat cortex and hippocampus.

Brain-derived neurotrophic factor (BDNF) critically controls the fate and function of the neuronal network and has received much attention as a target of many brain diseases. Dopaminergic system dysfunction has also been implicated in a variety of neuropsychiatric diseases. Rotigotine, a non-ergot dopamine receptor agonist, is used in the treatment of Parkinson's disease and restless legs syndrome.

Changes in resting-state brain networks after cognitive-behavioral therapy for chronic pain.

Background: Cognitive-behavioral therapy (CBT) is thought to be useful for chronic pain, with the pathology of the latter being closely associated with cognitive-emotional components. However, there are few resting-state functional magnetic resonance imaging (R-fMRI) studies. We used the independent component analysis method to examine neural changes after CBT and to assess whether brain regions predict treatment response.

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Background: Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases, with clinical phenotypes and protein studies of patients, is increasingly recognized as a reference for genetic diagnosis and for the development of gene therapy.

Impact of glucocorticoid on neurogenesis.

Neurogenesis is currently an area of great interest in neuroscience. It is closely linked to brain diseases, including mental disorders and neurodevelopmental disease. Both embryonic and adult neurogeneses are influenced by glucocorticoids secreted from the adrenal glands in response to a variety of stressors.

Association of obesity with cognitive function and brain structure in patients with major depressive disorder.

Background: Obesity has been implicated in the pathophysiology of major depressive disorder (MDD), which prompted us to examine the possible association of obesity with cognitive function and brain structure in patients with MDD.

Methods: Three hundred and seven patients with MDD and 294 healthy participants, matched for age, sex, ethnicity (Japanese), and handedness (right) were recruited for the study. Cognitive function was assessed using the Brief Assessment of Cognition in Schizophrenia (BACS).

The Direct/Indirect Association of ADHD/ODD Symptoms with Self-esteem, Self-perception, and Depression in Early Adolescents.

The present study aimed to reveal the influences of attention-deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) symptoms on self-esteem and self-perception during early adolescence and to clarify the spillover effect of self-esteem on depressive symptoms. ADHD symptoms in 564 early adolescents were evaluated teacher-rating scales. Self-esteem and depressive symptoms were assessed self-reported scales.

Association Between Autistic Traits in Preschool Children and Later Emotional/Behavioral Outcomes.

Although children with a greater number of autistic traits are likely to have other mental health problems, research on the association between earlier autistic traits in preschool children and later emotional/behavioral outcomes is scarce. Using data from 189 Japanese community-based children, this study examined whether autistic traits at age 5 were related to emotional/behavioral outcomes at age 7. The results showed that prior autistic traits were subsequently associated with all emotional/behavioral domains.

Novel aspects of extracellular adenosine dynamics revealed by adenosine sensor cells.

Adenosine modulates diverse physiological and pathological processes in the brain, including neuronal activities, blood flow, and inflammation. However, the mechanisms underlying the dynamics of extracellular adenosine are not fully understood. We have recently developed a novel biosensor, called an adenosine sensor cell, and we have characterized the neuronal and astrocytic pathways for elevating extracellular adenosine.

Surgical strategy to avoid ischemic complications of the pyramidal tract in resective epilepsy surgery of the insula: technical case report.

Surgical treatment of the insula is notorious for its high probability of motor complications, particularly when resecting the superoposterior part. Ischemic damage to the pyramidal tract in the corona radiata has been regarded as the cause of these complications, resulting from occlusion of the perforating arteries to the pyramidal tract through the insular cortex. The authors describe a strategy in which a small piece of gray matter is spared at the bottom of the periinsular sulcus, where the perforating arteries pass en route to the pyramidal tract, in order to avoid these complications.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.

Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years.

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.

A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), however, the precise molecular mechanism by which the C9orf72 hexanucleotide repeat expansion directs C9ALS/FTD pathogenesis remains unclear. Here, we report a novel disease mechanism arising due to the interaction of C9ORF72 with the RAB7L1 GTPase to regulate vesicle trafficking. Endogenous interaction between C9ORF72 and RAB7L1 was confirmed in human SH-SY5Y neuroblastoma cells.