Spinal Dural Arteriovenous Fistulas in a Patient with Cowden Syndrome and a Phosphatase and Tensin Homolog Mutation.

Cowden syndrome (CS) is an autosomal dominant syndrome characterized by the development of hamartomas and an increased cancer risk. Most CS patients harbor mutations in the phosphatase and tensin homolog (PTEN) gene. We herein report a 70-year-old patient with CS who presented with lower extremity weakness caused by multiple thoracic dural arteriovenous fistulas.

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.

Evaluating the impact of adjunctive istradefylline on the cumulative dose of levodopa-containing medications in Parkinson's disease: study protocol for the ISTRA ADJUST PD randomized, controlled study.

Background: Levodopa remains the most effective symptomatic treatment for Parkinson's disease (PD) more than 50 years after its clinical introduction. However, the onset of motor complications can limit pharmacological intervention with levodopa, which can be a challenge when treating PD patients. Clinical data suggest using the lowest possible levodopa dose to balance the risk/benefit.

Intrajejunal Infusion of Levodopa/Carbidopa for Advanced Parkinson's Disease: A Systematic Review.

Advanced Parkinson's disease is inconsistently defined, and evidence is lacking in relation to device-aided therapies. To update existing reviews of intrajejunal infusion of levodopa/carbidopa (LCIG), we performed a literature search for relevant articles (to November 3, 2020) using PubMed supplemented by hand searching. Retrieved articles were categorized by relevance to identified research questions, including motor complications and symptoms; nonmotor symptoms; functioning, quality of life, and caregiver burden; optimal timing of treatment initiation and administration duration; discontinuation; and complications.

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.

Myasthenia Gravis with Anti-Muscle-Specific Tyrosine Kinase Antibody during Pregnancy and Risk of Neonatal Myasthenia Gravis: A Case Report and Review of the Literature.

A 31-year-old woman presented with a nasal voice, dysarthria, and upper limb weakness during her first pregnancy. Soon after delivery of her first baby, her symptoms disappeared. At the age of 34 years, during her second pregnancy, her nasal voice re-appeared.

Impact of Residual Drug in the Pharynx on the Delayed-On Phenomenon in Parkinson's Disease Patients.

Background And Objective: The delayed-on phenomenon (DOP) related to levodopa treatment frequently disturbs quality of life in advanced-stage Parkinson's disease (PD) patients. The objective of this study was to explore the impact of swallowing dysfunction on the development of DOP.

Methods: Swallowing function was investigated by endoscopic evaluation in 11 PD patients with the DOP and 9 PD patients without the DOP during the phase.

A new therapeutic strategy with istradefylline for postural deformities in Parkinson's disease.

Aim Of The Study: Postural deformities are common in Parkinson's disease (PD) patients. Several treatment options have been reported, but responses to these treatments appear unpredictable. Istradefylline is a novel drug for PD.

Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.

Parkinson's disease (PD) and atypical parkinsonian syndromes are age-dependent multifactorial neurodegenerative diseases, which are clinically characterized by bradykinesia, tremor, muscle rigidity and postural instability. Although these diseases share several common clinical phenotypes, their pathophysiological aspects vary among the disease categories. Extensive animal-based approaches, as well as postmortem studies, have provided important insights into the disease mechanisms and potential therapeutic targets.

Feeding-produced subchronic high plasma levels of uric acid improve behavioral dysfunction in 6-hydroxydopamine-induced mouse model of Parkinson's disease.

The development of Parkinson's disease (PD) involves the degeneration of dopaminergic neurons caused by oxidative stress. Accumulating clinical evidence indicates that high blood levels of uric acid (UA), an intrinsic antioxidative substance, are associated with reduced risk of PD. However, this hypothesis has not been confirmed by in-vivo experiments.

Longstanding IgG4-related Ophthalmic Disease Dramatically Improved after Steroid Therapy.

A 61-year-old man was admitted to our hospital because of decreased visual acuity. On admission, he had marked blepharoedema, conjunctival injection, exophthalmos, diplopia, and blurred vision. He also had bronchial asthma and urinary retention requiring urethral catheterization.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing.

A prospective study of falls in relation to freezing of gait and response fluctuations in Parkinson's disease.

Introduction: Falls are a disabling feature of Parkinson's disease (PD). In this prospective study we investigated: (1) in which motor state patients with PD fallmost often; and (2) whether freezing of gait (FOG) and dyskinesias contribute to falls.

Methods: Patients with PD who had fallen at least once in the previous year and had wearing-off were recruited.

The Risk Factors for the Wearing-off Phenomenon in Parkinson's Disease in Japan: A Cross-sectional, Multicenter Study.

Objective Parkinson's disease (PD) is a common, progressive, neurodegenerative disorder. With progression of PD, the wearing-off phenomenon occurs more frequently as a motor complication, decreasing the patient's quality of life. The aim of this study was to investigate the risk factors for the wearing-off phenomenon in Japanese PD patients.

[Acyclovir resistant acute herpes simplex encephalitis associated with acute retinal necrosis: A case report and review of the literature].

A 55-year-old man was admitted to our hospital for investigation of high fever, decreased consciousness and bilateral visual impairment. His cerebrospinal fluid analysis revealed pleocytosis of mononuclear cells and an increased protein concentration. FLAIR images revealed multiple high-intensity lesions in the frontal lobe, part of which was enhanced with gadolinium.

Serum uric acid level is linked to the disease progression rate in male patients with multiple system atrophy.

Objectives: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder that may be caused in part by oxidative stress. Uric acid (UA) protects neurons in neurodegenerative disorders via antioxidative effects. The aim of this study was to investigate the relationship between the serum UA concentration and disease progression in MSA patients.

The Prevalence of Constipation and Irritable Bowel Syndrome in Parkinson's Disease Patients According to Rome III Diagnostic Criteria.

Background: Gastrointestinal symptoms are one of the most common non-motor features of Parkinson's disease (PD). Recently, a report from Taiwan revealed that irritable bowel syndrome (IBS) may be associated with an increased risk of developing PD; however, the prevalence of IBS in PD patients has not been fully evaluated. Rome III criteria are widely assessed with a questionnaire to determine functional gastrointestinal disorders.