Publications by authors named "Masaki Kamada"

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  • - The study investigates the effects of enfortumab vedotin, a new treatment for urothelial cancer, focusing on how peripheral neuropathy impacts its effectiveness and if early nerve changes are linked to neuropathy onset.
  • - In a trial involving 34 patients with advanced bladder cancer who had not responded to previous therapies, the treatment showed promising results with a 52.9% overall response rate and significant survival benefits.
  • - Peripheral neuropathy was present in 12.5% of patients, but interestingly, those affected had better response rates compared to those without neuropathy; nerve studies showed that sensory nerves were more impacted, particularly the sural nerve.
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  • Progressive supranuclear palsy (PSP) is a challenging neurodegenerative disorder characterized by symptoms like balance issues, vision problems, voice difficulties, and dementia, with no clear diagnostic biomarkers.
  • The study investigated cerebrospinal fluid microRNAs (miRNAs) in 11 PSP patients, using a microarray chip to analyze expression levels, finding 38 miRNAs significantly upregulated and one downregulated compared to controls.
  • Specific miRNAs associated with disease stages were linked to biological pathways like ubiquitin-proteasome and autophagy, suggesting they could play a role in PSP's pathogenesis and aid in future diagnostic efforts.
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The present study aimed to assess spinal tract formation in neurons originating from cervical (C7), brachial (C14), and thoracic (T4) regions, with the lumbar (LS2) region as a reference, in a chick embryo. For the assessment of the spinal tracts, we introduced a vector expressing human placental alkaline phosphatase into progenitor cells generated after neural tube closure and belonging to the above segments, using in ovo electroporation. The ascending axons took primarily similar paths: dorsal commissural, ventral commissural, and dorsal non-commissural paths, with some variance depending on their originating segments.

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Parkinson's disease (PD) is caused by a combination of genetic and environmental factors. Notably, genetic risk factors vary according to ethnicity and geographical regions, and few studies have analyzed the frequency of PD causative genes in Japanese patients. Therefore, we performed genetic analyses of Japanese patients with PD.

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Eradication therapy of may be safe if hemin has been intravenously administered in advance, even in patients with a history of recurrent acute porphyria attack.

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We previously showed that optineurin (OPTN) mutations lead to the development of amyotrophic lateral sclerosis. The association between OPTN mutations and the pathogenesis of amyotrophic lateral sclerosis remains unclear. To investigate the mechanism underlying its pathogenesis, we generated Optn knockout mice.

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The choroid plexus plays a central role in the regulation of the microenvironment of the central nervous system by secreting the majority of the cerebrospinal fluid and controlling its composition, despite that it only represents approximately 1% of the total brain weight. In addition to a variety of transporter and channel proteins for solutes and water, the choroid plexus epithelial cells are equipped with glucose, fructose, and urate transporters that are used as energy sources or antioxidative neuroprotective substrates. This review focuses on the recent advances in the understanding of the transporters of the SLC2A and SLC5A families (GLUT1, SGLT2, GLUT5, GLUT8, and GLUT9), as well as on the urate-transporting URAT1 and BCRP/ABCG2, which are expressed in choroid plexus epithelial cells.

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The entry of blood-borne macromolecular substances into the brain parenchyma from cerebral vessels is blocked by the blood-brain barrier (BBB) function. Accordingly, increased permeability of the vessels induced by insult noted in patients suffering from vascular dementia likely contributes to the cognitive impairment. On the other hand, blood-borne substances can enter extracellular spaces of the brain via endothelial cells at specific sites without the BBB, and can move to brain parenchyma, such as the hippocampus and periventricular areas, adjacent to specific sites, indicating the contribution of increased permeability of vessels in the specific sites to brain function.

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Objective: To report the course of 3 recent Japanese and European cases of fingolimod-associated progressive multifocal leukoencephalopathy (PML) and to analyze its risk factors and increased incidence in Japan.

Methods: Case series and literature review.

Results: Fingolimod-associated PML may cause both supratentorial and infratentorial lesions and a pronounced disability.

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  • - Granulovacuolar degeneration (GVD), initially linked to Alzheimer's disease, has been found in aging brains and is thought to be connected to tauopathy despite unclear mechanisms.
  • - The study investigated the activated protein pp65 linked to inflammation in various neurodegenerative conditions, finding higher levels of pp65-positive GVDs in Alzheimer's cases compared to others, suggesting a connection between pp65 and GVD.
  • - Findings indicate that the NF-κB pathway, represented by pp65, could play a role in GVD formation and might serve as a potential therapeutic target for Alzheimer's and other age-related neurodegenerative diseases.
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Objectives: The establishment of biomarkers for amyotrophic lateral sclerosis (ALS) will be useful for early diagnosis and may provide evidence about pathogenesis. To elucidate whether high-field magnetic resonance (MR) findings and multimodal analysis of cerebrospinal fluid (CSF) levels of cystatin C could be indicators of upper motor neuron (UMN) involvement in ALS.

Patients And Methods: Patients with ALS (n = 20), multiple sclerosis (n = 15), immune mediated chronic polyneuropathy (n = 17), and acute polyneuropathy (n = 12) were included in this retrospective study.

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Optineurin (OPTN) is a causative gene in familial amyotrophic lateral sclerosis (ALS) with transactivation response element DNA-binding protein of 43 kDa (TDP-43) protein pathology. Here, we report multiple proteinopathies in familial ALS cases with OPTN mutations. We examined the TDP-43, tau, and α-synuclein pathology of ALS cases with OPTN mutations including 2 previously reported cases (Cases 1 and 2) and 1 newly autopsied case (Case 3) that was clinically diagnosed as ALS and Parkinson disease with a heterozygous E478G OPTN mutation.

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Multiple system atrophy (MSA) is a sporadic neurodegenerative disease that is pathologically characterized by α‑synuclein positive glial cytoplasmic inclusions in oligodendrocytes. The clinical diagnosis of MSA is often challenging as there are no established biomarkers and diagnoses are now based on clinical findings alone. At present, the etiology and pathogenesis of MSA are unclear.

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Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically.

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  • Spinocerebellar ataxia type 10 (SCA10) is an inherited neurological disorder caused by a genetic expansion, leading to symptoms like ataxia and epilepsy.
  • This study reports the first identified SCA10 family in Japan, showcasing symptoms such as cerebellar ataxia, hyperreflexia, and cognitive impairment, along with brain MRI findings of frontal lobe atrophy.
  • The genetic analysis of the affected individual indicates a specific haplotype that suggests the mutation's origins may trace back to migrations from East Asia before spreading across the Americas.
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A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator.

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Arachnoid cyst (AC) is a neurological complication of autosomal dominant polycystic kidney disease (ADPKD). Although an AC can increase the risk of a subdural hematoma, the clinical presentation of bleeding into an AC associated with ADPKD is not well known. We herein report the case of a 59-year-old woman in whom the initiation of hemodialysis for renal failure led to AC bleeding.

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Introduction: We investigated possible genotype-phenotype correlations in Japanese patients with familial amyotrophic lateral sclerosis (FALS) carrying fused in sarcoma/translated in liposarcoma (FUS/TLS) gene mutations.

Methods: A consecutive series of 111 Japanese FALS pedigrees were screened for copper/zinc superoxide dismutase 1 (SOD1) and FUS/TLS gene mutations. Clinical data, including onset age, onset site, disease duration, and extramotor symptoms, were collected.

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Although the sensitive detection of putaminal iron deposition by T2*-weighted imaging (T2*-WI) is of diagnostic value for multiple system atrophy (MSA), the diagnostic significance of the pontine hot-cross bun (HCB) sign with increased ferritin-bound iron in the background remains unknown. We retrospectively evaluated the cases of 33 patients with cerebellar-form MSA (MSA-C) and 21 with MSA of the parkinsonian form (MSA-P) who underwent an MRI study with a 1.5-T system.

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We report the case of a 46-year-old Japanese woman with neuromyelitis optica spectrum disorder presenting with repeated hypersomnia accompanied by decreased CSF orexin level. First episode associated with hypothalamic-pituitary dysfunction showed bilateral hypothalamic lesions that can cause secondary damage to the orexin neurons. The second episode associated with impaired memory showed a left temporal lesion involving the amygdala.

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