Widespread Distribution of α-Synuclein Oligomers in -related Parkinson's Disease.

Mutations in leucine-rich repeat kinase 2 ( ) are the most common cause of familial and sporadic Parkinson's disease (PD). While the clinical features of -PD patients resemble those of typical PD, there are significant differences in the pathological findings. The pathological hallmark of definite PD is the presence of α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half of -PD cases do not have Lewy-related pathology.

Dystextia and dystypia due to phonological errors after ischemic stroke: a case report in a Japanese patient.

A 69-year-old Japanese male presented with acute dystextia and dystypia, defined as texting and typing impairments, respectively. His text input speed decreased due to a phonologically incorrect kana flick input on his smartphone. Additionally, dystypia occurred due to phonemic paragraphia of Romaji.

A single-nucleotide substitution of determines pollen production in the gymnosperm plant .

Pollinosis, also known as pollen allergy or hay fever, is a global problem caused by pollen produced by various plant species. The wind-pollinated Japanese cedar () is the largest contributor to severe pollinosis in Japan, where increasing proportions of people have been affected in recent decades. The () locus of Japanese cedar controls pollen production, and its homozygous mutants () show abnormal pollen development after the tetrad stage and produce no mature pollen.

CRISPR/Cas9-mediated disruption of CjACOS5 confers no-pollen formation on sugi trees (Cryptomeria japonica D. Don).

Sugi (Cryptomeria japonica D. Don) is an economically important coniferous tree in Japan. However, abundant sugi pollen grains are dispersed and transported by the wind each spring and cause a severe pollen allergy syndrome (Japanese cedar pollinosis).

Favorable Outcome with Intravenous Immunoglobulin Therapy in Late-Onset Anti-mGluR1 Encephalitis: A Case Report and Literature Review.

Anti-metabotropic glutamate receptor 1 (mGluR1) encephalitis is a rare autoimmune disorder manifesting with cerebellar syndrome. Patients with mGluR1 encephalitis have been treated with immunomodulatory therapies; however, little is known about the efficacy of this therapy. A 58-year-old Japanese woman presented with dizziness when walking and standing up.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. While prior reports, often in populations with high rates of consanguinity, have established a general phenotype, there is a lack of systematic investigations and a limited understanding of age-dependent manifestation of symptoms.

Discrepancy between distribution of alpha-synuclein oligomers and Lewy-related pathology in Parkinson's disease.

The pathological hallmarks of Parkinson's disease (PD) are α-synuclein (αSYN)-positive inclusions referred to as Lewy bodies and Lewy neurites, collectively referred to as Lewy-related pathology (LRP). LRP is thought to propagate in an ascending manner throughout the brain as the disease progresses. LRP is visible with histologic methods and is thought to represent a later stage of the disease process, while αSYN oligomers, which are not visible with routine histologic methods, are considered earlier.

[COVID-19-associated Guillain-Barré syndrome in infectious period: a case report].

A 75-year-old man with a history of hypertension developed weakness and sensory disturbance in the extremities 1 week after upper respiratory tract infection and faced difficulty walking. Screening at the time of hospital admission revealed an incidental positive SARS-CoV-2 PCR test, and COVID-19 was diagnosed. Neurological findings showed dysarthria, dysphagia, absence of deep tendon reflexes in the extremities, distal-dominant muscle weakness, sensory disturbance, urinary retention and constipation.

Impact of tracheostomy invasive ventilation on survival in Japanese patients with multiple system atrophy.

Introduction: Tracheostomy invasive ventilation (TIV) is therapeutic intervention to prolong survival. However, few reports have addressed TIV in multiple system atrophy (MSA). This study sought to evaluate the impact of TIV on survival in MSA patients.

Two Lambert-Eaton Myasthenic Syndrome Patients with Ameliorated Activities of Daily Living Due to Cholinesterase Inhibitors.

We herein report two P/Q-type voltage-gated calcium channel (VGCC) antibody-positive Lambert-Eaton myasthenic syndrome (LEMS) patients who responded dramatically to cholinesterase inhibitors. Patient 1, a 76-year-old man, had small-cell lung cancer and developed LEMS during chemotherapy. When symptomatic treatment was started with pyridostigmine, gait disturbance was ameliorated, and his modified Rankin scale decreased from 4 points to 3 points.

A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.

To clarify the influence of coronavirus disease-19 (COVID-19) on the care of muscular dystrophy patients, we performed a questionnaire survey that was posted on the internet on May 11, 2020. By the end of July 2020, 542 responses had been collected. Approximately 30% of patients postponed regular consultations, and one-quarter of patients who received consultation more than once a month used telephone consultations.

Count of Fasciculation in Ultrasound Can Predict the Prognosis of Amyotrophic Lateral Sclerosis.

Background: Although muscle ultrasound (MUS) is known to facilitate the diagnosis and evaluation of the severity of amyotrophic lateral sclerosis (ALS), the number of fasciculation has been scarcely examined as a predictive marker of the prognosis in ALS.

Objective: The objective of this study was to examine the predictive value of fasciculation number for the prognosis of ALS.

Materials And Methods: We examined fasciculation count (FasC), defined as the number of fasciculation per unit of time and area in MUS, of 11 patients with clinically probable or definite ALS.

Scanning RNA-Seq and RAD-Seq approach to develop SNP markers closely linked to () in D. Don.

is a major forestry tree species in Japan. Male sterility of the species is caused by a recessive gene, which shows dysfunction of pollen development and results in no dispersed pollen. Because the pollen of induces pollinosis, breeding of pollen-free is desired.

Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation.

Multiple system atrophy (MSA) is a fatal adult-onset neurodegenerative disease that is characterized by varying degrees of cerebellar dysfunction and Parkinsonism. The neuropathological hallmark of MSA is alpha-synuclein (AS)-positive glial cytoplasmic inclusions (GCIs). Although severe neuronal loss (NL) is also observed in MSA, neuronal inclusions (NIs) are rare compared to GCIs, such that the pathological mechanism of NL in MSA is unclear.

Injection of Onabotulinum Toxin A into the Bilateral External Oblique Muscle Attenuated Camptocormia: A Prospective Open-Label Study in Six Patients with Parkinson's Disease.

Introduction: Camptocormia (severe bending of the spine) is a debilitating complication of Parkinson's disease (PD) without established treatment. Botulinum toxin (BT) may be beneficial, but data is scarce regarding the efficacy of administration of BT into the bilateral external oblique (EO) muscle for treatment of camptocormia in PD.

Methods: Six patients with PD and camptocormia, with flexion of the thoracic spine, were enrolled in the study.

Comprehensive analysis of small RNAs expressed in developing male strobili of Cryptomeria japonica.

Deep sequencing of small RNAs (sRNAs) in developing male strobili of second-generation offspring originating from a nuclear genic male sterile tree of Cryptomeria japonica were performed to characterize sRNA populations in the male strobili at early pollen developmental stages. Comparing to sequences of microRNA (miRNA) families of plant species and sRNAs expressed in the reproductive organs of representative vascular plants, 37 conserved miRNA families were detected, of which eight were ubiquitously expressed in the reproductive organs of land plant species. In contrast, miR1083 was common in male reproductive organs of gymnosperm species but absent in angiosperm species.

Opposite domination of cyclic and pseudocyclic electron flows in short-illuminated dark-adapted leaves of angiosperms and gymnosperms.

The present work was aimed to explain the recently reported higher O-dependent electron flow capacity in gymnosperms than in angiosperms and to search for other differences in the electron transport processes by simultaneous characterization of the relative capacities of pseudocyclic (direct or Flavodiiron proteins (Flv)-mediated O-reduction, Mehler(-like) reactions) and cyclic electron flows around photosystem I (CEF-PSI). To this end, a comparative multicomponent analysis was performed on the fluorescence decay curves of dark-adapted leaves after illumination with a 1-s saturating light pulse. In both gymnosperms and angiosperms, two or three exponential decay components were resolved: fast (t 1 ~ 170-260 ms), middle (~1.

Giant cell tumor of bone arising in long bones possibly originates from the metaphyseal region.

Giant cell tumor of bone (GCTB) is a primary benign bone tumor with a locally aggressive character. Definitive descriptions of the site of origin for this type of tumor are not available. The aim of the present study was to evaluate the site of origin of GCTB of long bones with regards to epiphyseal lines by means of radiographic examination.

Sex expression and inbreeding depression in progeny derived from an extraordinary hermaphrodite of Salix subfragilis.

Background: An extraordinary hermaphrodite of dioecious willows provides us an opportunity to examine the inheritance of sex expression and the magnitude of inbreeding depression using a progeny assay of the hermaphrodite.

Results: We indentified 165 progeny of an open-pollinated hermaphrodite of Salix subfragilis as siblings selfed (Self) or crossed with another hermaphrodite (Cross_H) or a male (Cross_M) using microsatellite genotypes. There were more selfed progeny (110 in Self) than outcrossed progeny (31 in Cross_H and 24 in Cross_M), suggesting the absence of barriers to selfing in the maternal hermaphrodite.

Neoadjuvant and adjuvant chemotherapy with doxorubicin and ifosfamide for bone sarcomas in adult and older patients.

The present study investigated the safety and efficacy of neoadjuvant and adjuvant chemotherapy with doxorubicin and ifosfamide for bone sarcoma in adult and older patients. A total of 18 consecutive patients with bone sarcoma (American Joint Committee on Cancer stage II in 14 patients and stage IV in four) treated with neoadjuvant and adjuvant chemotherapy at Nagoya Musculoskeletal Oncology Group hospitals in Japan between 2004 and 2011 were reviewed. The treatment efficacy and side-effects were evaluated.