Publications by authors named "Takashi Matsukawa"
Article Synopsis
- Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease, with recent connections made between variants in the SPTLC1 gene and both hereditary neuropathy and juvenile ALS.
- The study analyzed genetic data from patients with familial and sporadic ALS to assess the presence and effects of SPTLC1 variants, using techniques like RT-PCR and ddPCR to evaluate splicing and genetic mosaicism.
- A specific SPTLC1 variant was found in a 21-year-old female patient with juvenile ALS, inherited from her asymptomatic father who exhibited a mosaic form of the variant, highlighting the need for further exploration of the clinical implications of such mosaicism.
We herein report a 26-year-old man diagnosed with Wilson's disease (WD), initially treated for schizophrenia for 11 years. At 26 years old, he was admitted because of status epilepticus. Brain magnetic resonance imaging revealed frontal-dominant leukoencephalopathy with cystic changes and basal ganglia atrophy.
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- - Multiple system atrophy (MSA) is a neurodegenerative disorder that causes issues with the autonomic nervous system and can result in symptoms like cerebellar ataxia or parkinsonism.
- - In this study, researchers looked at the frequency of expanded GAA repeats in a gene called FGF14 among 548 MSA patients, 476 individuals with unexplained ataxia, and 455 healthy people, finding a very low incidence in MSA cases.
- - Despite one MSA patient having the GAA repeat, their symptoms did not align with spinocerebellar ataxia type 27B (SCA27B), suggesting a need for further investigation into the connection between GAA repeats and
Introduction: l-glutamine has been shown to have cardioprotective effects in models of ischemia-reperfusion injury. Its potential cardioprotective effects when given before and during early reperfusion, however, have not been studied.
Methods: This study hypothesized that l-glutamine administered before and after myocardial ischemia provides better cardioprotection than when administered after ischemia only.
We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia.
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- Multiple system atrophy (MSA) is a neurodegenerative disease that displays symptoms like autonomic failure, parkinsonism, and cerebellar ataxia.
- Researchers used whole-genome sequencing to study the role of the GBA1 gene in MSA and dealt with challenges due to its similarity to a pseudogene, GBA1LP.
- They found five variants with discrepancies in genetic analyses and confirmed that the variant p.L483P is associated with MSA at a significant level, suggesting it could be a risk factor for the disease.
Background: Idiopathic basal ganglia calcification (IBGC), also known as Farh's disease, is a rare neurodegenerative disorder characterized by calcification of the basal ganglia and other brain regions. This disease usually occurs in middle-aged patients and presents with various neurological and psychiatric symptoms. The exact prevalence is unknown; however, population genomic data analysis suggests a prevalence of at least 4.
View Article and Find Full Text PDFCalpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels.
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- - This study investigated the highest safe dosage of intranasal insulin for patients undergoing cardiac surgery, focusing on potential hypoglycemia caused by different insulin doses.
- - A total of 27 out of 29 patients received either insulin or saline, with no hypoglycemia observed in doses up to 160 IU, but two patients experienced hypoglycemia at the highest dose of 240 IU.
- - The results suggest that while up to 160 IU of intranasal insulin is generally safe, caution is advised due to the risk of insulin entering systemic circulation in a dose-dependent manner.
Post-transplant lymphoproliferative disorders (PTLDs) are lymphoproliferative diseases that occur after solid organ transplantation or hematopoietic stem cell transplantation (HSCT). The development of PTLD is often associated with reactivation of Epstein-Barr virus (EBV). A 26-year-old woman with a history of HSCT and total-body irradiation developed spinal cord hemorrhage from a radiation-induced cavernous hemangioma (RICH) shortly after the development of classical Hodgkin lymphoma PTLD with EBV reactivation.
View Article and Find Full Text PDFObjective: Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early-onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facilitate the development of targeted therapies.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive lysosomal disease caused by decreased activity of the enzyme tripeptidyl peptidase 1 (TPP1) due to pathogenic variants in the TPP1 gene. Cerliponase alfa, a recombinant proenzyme form of TPP1, has shown efficacy in preventing motor and language function decline in early-stage CLN2. However, the safety and effects of this therapy in advanced-stage CLN2 are unclear.
View Article and Find Full Text PDFPurpose: Perioperative shivering is common and can occur as a result of hypothermia or changes in the threshold of thermoregulation. Droperidol usage for anesthesia is currently limited to its sedative and antiemetic effects. We investigated the effects of high and low doses of droperidol on the shivering threshold in rabbits.
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- - Adrenomyeloneuropathy (AMN) is an X-linked genetic disorder related to mutations in the ABCD1 gene, leading to issues like spastic paraparesis and cerebral complications.
- - A 54-year-old man was diagnosed with AMN after finding a harmful splice-site variant in the ABCD1 gene and elevated very long-chain fatty acids in his system.
- - Analysis of ABCD1 mRNA showed reduced levels of this gene's expression and a specific deletion, suggesting that these splice-site changes could reveal more about the underlying causes of adrenoleukodystrophy (ALD).
Article Synopsis
- Protein misfolding is a significant contributor to neurodegenerative diseases, particularly affecting post-mitotic neurons which can't dilute protein aggregates through cell division.
- LONRF2 is identified as a protein quality control ubiquitin ligase that helps manage misfolded proteins in post-mitotic cells, primarily neurons.
- The absence of LONRF2 leads to motor neuron degeneration and functional decline, while adding LONRF2 can protect against deterioration seen in conditions like amyotrophic lateral sclerosis.
Article Synopsis
- A genome-wide association study (GWAS) on multiple system atrophy (MSA) was conducted using data from various populations including Japanese, Korean, Chinese, European, and North American samples.
- The study identified a significant genetic variant, rs2303744 on chromosome 19, which showed strong association with MSA in East Asian populations and was also significant in European/North American samples despite differences in allele frequencies.
- The associated variant leads to an amino acid change in the cPLA2γ enzyme, resulting in reduced enzymatic activity that could disrupt biological processes involving membrane phospholipids and α-synuclein, potentially contributing to the disease's development.
Objective: Lactoferrin is an iron-binding glycoprotein. Enteral lactoferrin attenuates myocardial ischemia-reperfusion (IR) injury, but the underlying mechanism remains unknown. The aim of this study was to investigate protein kinase A (PKA) signaling pathway activation and levels of serum glucagonlike peptide-1 (GLP-1), secreted by intestinal endocrine L cells, and adiponectin, secreted by adipose tissue, after enteral lactoferrin administration.
View Article and Find Full Text PDFRationale: Gorham-Stout disease (GSD) is a rare disease that causes massive osteolysis and proliferation of abnormal lymphangiomatous tissues. Patients with GSD often experience pain associated with bone fractures and chylothorax. However, bleeding caused by abnormal lymphangiomatous tissue or hematological dysfunction rarely occurs.
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- This study investigates the use of cerebrospinal fluid neurofilament light chain (cNfL) as a biomarker for detecting and monitoring cerebral adrenoleukodystrophy (CALD) in patients.
- Results show that cNfL levels are significantly higher in CALD patients compared to those with adrenomyeloneuropathy (AMN), and specific cNfL thresholds can effectively differentiate between these forms of ALD.
- Additionally, cNfL levels correlate well with disease severity and response to hematopoietic stem cell transplantation (HSCT), suggesting its potential as a valuable tool for monitoring ALD progression and treatment efficacy.
Background: Functionally impaired variants of , encoding an enzyme in biosynthesis of coenzyme Q10 (CoQ10), were found in familial multiple system atrophy (MSA) and V393A in is associated with sporadic MSA. Furthermore, reduced levels of CoQ10 have been demonstrated in MSA patients.
Methods: This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.