Efficacy and Safety of Elobixibat in Parkinson's Disease with Chronic Constipation: CONST-PD Study.

Background: Chronic constipation is a common digestive complication of Parkinson's disease (PD).

Objectives: To verify the usefulness of elobixibat, an ileal bile acid transporter inhibitor, for chronic constipation in PD.

Methods: This double-blind, placebo-controlled study consisted of a 2-week observation/washout period and a 4-week treatment period.

Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on and multi-vitamin deficiency.

Hyperhomocysteinemia is an important risk factor for cerebral infarction. Herein, we report on a 30-year-old man previously diagnosed with epilepsy who presented with right hemiplegia and total aphasia. Magnetic resonance imaging showed a fronto-temporal ischemic lesion due to occlusion of the left middle cerebral artery.

Two rare diseases, acute calcific retropharyngeal tendinitis, and crowned dens syndrome, mimicking meningitis: A case report.

We report two rare cases. One involved acute calcific retropharyngeal tendinitis, an inflammatory condition of the longus colli tendon triggered by the deposition of calcium hydroxyapatite crystals. The other involved crowned dens syndrome, caused by pseudogout of the atlantoaxial junction following deposition of calcium pyrophosphate dehydrate or calcium hydroxyapatite.

Inversely polarized thermo-electrochemical power generation via the reaction of an organic redox couple on a TiO/Ti mesh electrode.

We demonstrate thermo-electrochemical (TEC) conversion using a biocompatible redox couple of lactic acid and pyruvic acid on earth-abundant TiO. The TEC cell exhibited a positive Seebeck coefficient of 1.40 mV K.

Herpes Zoster Radiculomyelitis With Aquaporin-4 Antibodies: A Case Report and Literature Review.

The relationship between varicella-zoster virus (VZV)-associated myelitis and aquaporin-4 immunoglobulin-G (AQP4-IgG) remains unknown. We report a case of acute radiculomyelitis with longitudinal extensive hyperintensity signals traversing the brainstem until the upper thoracic cord in a 55-year-old healthy woman following herpes zoster infection in the left C4-T3 dermatome. VZV-specific IgG in the cerebrospinal fluid (CSF) and AQP4-IgG positivity on enzyme-linked immunosorbent assay (ELISA) were undetectable.

Cervico-shoulder dystonia following lateral medullary infarction: a case report and review of the literature.

Background: Secondary cervical dystonia is induced by organic brain lesions involving the basal ganglia, thalamus, cerebellum, and brain stem. It is extremely rare to see cervical dystonia induced by a medullary lesion.

Case Presentation: We report a case of an 86-year-old Japanese woman who developed cervical dystonia following lateral medullary infarction.

Cytomegalovirus-associated encephalomyelitis in an immunocompetent adult: a two-stage attack of direct viral and delayed immune-mediated invasions. case report.

Background: It is clinically rare to find cytomegalovirus (CMV)-associated encephalomyelitis in immunocompetent adults. Here, we present the case of an adult patient who developed acute transverse myelitis that was followed by immune-mediated disseminated encephalomyelitis.

Case Presentation: A 38-year-old man developed acute paraplegia with paresthesia below the level of the T7-8 dermatome.

Acute psychosis as an initial manifestation of hypothyroidism: a case report.

Introduction: Hypothyroidism is one of the most important causes of treatable dementia, and psychosis occasionally associated with it is known as myxedema madness. We report a case of a 90-year-old patient who developed myxedema madness acutely without overt clinical symptoms and signs suggestive of hypothyroidism.

Case Presentation: A 90-year-old Japanese man, a general practitioner, was admitted to our emergency room because of acute-onset lethargy, delusions, and hallucinations.

Good's syndrome with opportunistic infection of the central nervous system: a case report.

Background: Immunodeficiency with a thymoma (Good's syndrome) is a rare condition occurring in patients with adult-onset hypogammaglobulinemia that is progressive after the removal of thymoma. Recently, we encountered a patient with Good's syndrome who suddenly developed opportunistic encephalitis 4 years after the resection of thymoma without a history of infectious complications.

Case Presentation: A 58-year-old man, who underwent surgery to remove a thymoma at the age of 54, was admitted because of speech difficulties.

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

Background: A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations. The diseases resulting from this expansion are referred to as 'c9FTD/ALS'. It has been suggested that c9FTD/ALS arose from a single founder.

DJ-1 associates with synaptic membranes.

Parkinson's disease (PD) is a neurodegenerative disorder caused by loss of dopaminergic neurons. Although many reports have suggested that genetic factors are implicated in the pathogenesis of PD, molecular mechanisms underlying selective dopaminergic neuronal degeneration remain unknown. DJ-1 is a causative gene for autosomal recessive form of PARK7-linked early-onset PD.

A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.

Myotonia congenita is caused by mutation of the CLCN1 gene, which encodes the human skeletal muscle chloride channel (ClC-1). The ClC-1 protein is a dimer comprised of two identical subunits each incorporating its own separate pore. However, the precise pathophysiological mechanism underlying the abnormal ClC-1 channel gating in some mutants is not fully understood.

PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy.

Mutations in PTEN-induced putative kinase 1 (PINK1) cause recessive form of Parkinson's disease (PD). PINK1 acts upstream of parkin, regulating mitochondrial integrity and functions. Here, we show that PINK1 in combination with parkin results in the perinuclear mitochondrial aggregation followed by their elimination.

TDP-43 mutation in familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating evidence has shown that 43kDa TAR-DNA-binding protein (TDP-43) is the disease protein in ALS and frontotemporal lobar degeneration. We previously reported a familial ALS with Bumina bodies and TDP-43-positive skein-like inclusions in the lower motor neurons; these findings are indistinguishable from those of sporadic ALS.

Total tau protein in cerebrospinal fluid and diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease.

Background: We have recently begun to doubt the effectiveness of periodic sharp wave complexes observed on electroencephalographs and the detection of 14-3-3 protein in cerebrospinal fluid (CSF) as diagnostic criteria for Creutzfeldt-Jakob disease (CJD). Diffusion-weighted magnetic resonance imaging (DWI) and the detection of total tau (t-tau) protein in CSF may be more sensitive diagnostic criteria.

Methods: Among 44 CJD patients, we selected 21 subjects that suffered from early-stage CJD, which was defined as cases in the 6 weeks following the onset of the disease.

Chronological changes in MRI and CSF biochemical markers in Creutzfeldt-Jakob disease patients.

Background: There are currently no markers for evaluating chronological changes in Creutzfeldt-Jakob disease (CJD). We examined if chronological changes in biochemical markers in cerebrospinal fluid (CSF) and diffusion-weighted magnetic resonance imaging (DWI) were utilizable for this purpose.

Methods: Ten independent patients were divided into two groups of 5 patients each.

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation.

Recently, 43-kDa TAR DNA-binding protein (TDP-43) was identified as a component of ubiquitinated inclusions (UIs) in sporadic amyotrophic lateral sclerosis (SALS). To clarify whether TDP-43 immunoreactivity is present in neuronal inclusions in familial ALS (FALS), we examined immunohistochemically the brains and spinal cords from four cases of FALS, two with Cu/Zn superoxide dismutase (SOD1) gene mutation and two without, together with three cases of SALS and three control subjects, using two antibodies, one polyclonal and one monoclonal, against TDP-43. Neuropathologically, the SOD1-related FALS cases were characterized by Lewy body-like hyaline inclusions (LBHIs) in the lower motor neurons.

Acetazolamide acts directly on the human skeletal muscle chloride channel.

Acetazolamide, a carbonic anhydrase inhibitor, is used empirically in neuromuscular diseases with episodic ataxia, weakness, and myotonia, although not all of the mechanisms responsible for its therapeutic effects are understood. To elucidate whether acetazolamide acts directly on the human skeletal muscle voltage-gated chloride channel (ClC-1), which is associated with myotonia, we evaluated the effects of acetazolamide on ClC-1 expressed in cultured mammalian cells, using whole-cell recording. Acetazolamide significantly shifted the voltage dependency of the open probability (P(o)) toward negative potentials in a dose-dependent manner, resulting in an increase of chloride conductance at voltages near the resting membrane potential.

14-3-3 protein, total tau and phosphorylated tau in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan.

1. Sporadic Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal disease. Patients with CJD usually become akinetic mutism within approximately 6 months.