Yuishin Izumi
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View article: Identification of Hasegawa Dementia Scale‐Revised Cutoff Scores Associated With Mini‐Mental State Examination Thresholds for Anti‐Amyloid β Therapies in Patients With Amnesia
Identification of Hasegawa Dementia Scale‐Revised Cutoff Scores Associated With Mini‐Mental State Examination Thresholds for Anti‐Amyloid β Therapies in Patients With Amnesia Open
Background This study aimed to evaluate Hasegawa Dementia Scale‐Revised (HDS‐R) cutoff scores that correspond to Mini‐Mental State Examination (MMSE) thresholds for identifying candidates for anti‐amyloid β (Aβ) therapies. Additionally, we…
View article: Whole-genome sequencing of 3,135 individuals representing the genetic diversity of the Japanese population
Whole-genome sequencing of 3,135 individuals representing the genetic diversity of the Japanese population Open
Whole-genome sequence information currently available for large-scale sequencing studies is biased toward European descent populations. Such bias causes difficulties in identifying disease-associated genetic variations in non-European popu…
View article: A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP‐43 Pathology
A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP‐43 Pathology Open
Summary This study identified a novel amyotrophic lateral sclerosis subtype with prominent astroglial phosphorylated TDP‐43 inclusions and minimal neuronal inclusions. The patients shared a clinical phenotype of flail arm variant of ALS. T…
View article: AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy
AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy Open
Multiple system atrophy (MSA) is a fatal, sporadic α-synucleinopathy characterized by glial cytoplasmic inclusions (GCIs) in oligodendrocytes. No causative gene for MSA has been identified to date. Herein, we report an intronic AGG repeat …
View article: A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing
A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing Open
Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.Pro70Leu), detected in a case of a mildly affected infant with Baraitser–Winter cerebrofrontofacial syndrome, characterized by unique craniofacial fea…
View article: Efficacy and Safety of <scp>IncobotulinumtoxinA</scp> for Treatment of Sialorrhea: A Multicenter, Phase 3 Study in Japan
Efficacy and Safety of <span>IncobotulinumtoxinA</span> for Treatment of Sialorrhea: A Multicenter, Phase 3 Study in Japan Open
Background Sialorrhea, caused by various neurological diseases, impairs patient health and quality of life. After the results of a randomized controlled trial, incobotulinumtoxinA was approved for the treatment of chronic sialorrhea in the…
View article: Correction: Online training program maintains motor functions and quality of life in patients with Parkinson's disease
Correction: Online training program maintains motor functions and quality of life in patients with Parkinson's disease Open
[This corrects the article DOI: 10.3389/fdgth.2024.1486662.].
View article: An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia Open
Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C>T p.(Arg83Trp) variant in RA…
View article: Magnetic Susceptibility and Area in the Subthalamic Nucleus Measured by <scp>QSM</scp> for Diagnosis of Progressive Supranuclear Palsy
Magnetic Susceptibility and Area in the Subthalamic Nucleus Measured by <span>QSM</span> for Diagnosis of Progressive Supranuclear Palsy Open
Background Iron deposition and atrophy of the subthalamic nucleus (STN) have been reported in progressive supranuclear palsy (PSP). Quantitative susceptibility mapping (QSM), an advanced MRI technique, enables noninvasive assessment of the…
View article: <i>GIPC1</i>intermediate-length repeat expansion in amyotrophic lateral sclerosis
<i>GIPC1</i>intermediate-length repeat expansion in amyotrophic lateral sclerosis Open
Repeat expansion diseases, particularly those involving GC-rich motifs, have been increasingly recognized as contributors to neurological and neuromuscular disorders. Amyotrophic lateral sclerosis (ALS) has been linked to several such expa…
View article: Evaluation of the diagnostic performance of brachial plexus ultrasound in amyotrophic lateral sclerosis
Evaluation of the diagnostic performance of brachial plexus ultrasound in amyotrophic lateral sclerosis Open
This study highlights the clinical value of BP-CSA as a potential ALS diagnostic biomarker and underscores its superiority over cervical nerve root measurements.
View article: Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings
Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings Open
Our results suggested that case review meetings in a multicenter study may improve diagnostic consistency, especially in bvFTD.
View article: Sarcoid Neuropathy Presenting with Two Novel Ultrasound Findings of Increased Intraneural Blood Flow and Small Saphenous Vein Wall Thickening
Sarcoid Neuropathy Presenting with Two Novel Ultrasound Findings of Increased Intraneural Blood Flow and Small Saphenous Vein Wall Thickening Open
Diagnosing sarcoid neuropathy (SN) can be difficult because of its nonspecific symptoms and requirement for histological confirmation. We herein report a 71-year-old woman who presented with distal muscle weakness and paresthesia. Nerve co…
View article: Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report
Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report Open
This case highlights the importance of considering ADA2 deficiency in patients with unexplained stroke and recurrent vasculitis, particularly those with a history of parental consanguinity. Measurement of serum ADA activity may serve as a …
View article: Immune checkpoint inhibitor-associated paraneoplastic cerebellar degeneration in a case of extensive-stage small-cell lung cancer with pre-existing anti-SOX1 antibody
Immune checkpoint inhibitor-associated paraneoplastic cerebellar degeneration in a case of extensive-stage small-cell lung cancer with pre-existing anti-SOX1 antibody Open
Neurological immune-related adverse events can manifest as paraneoplastic neurological syndrome (PNS), especially in patients with small-cell lung cancer (SCLC). We herein report a 73-year-old man with SCLC treated with an immune checkpoin…
View article: Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study
Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study Open
The immune system has garnered attention due to its association with disease progression in amyotrophic lateral sclerosis (ALS). However, the role of peripheral immune cells in this context remains controversial. Here, we conducted single-…
View article: Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study
Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study Open
The immune system has garnered attention due to its association with disease progression in amyotrophic lateral sclerosis (ALS). However, the role of peripheral immune cells in this context remains controversial. Here, we conducted single-…
View article: Neuroinflammation and glycosylation-related cerebrospinal fluid proteins for predicting functional decline in amyotrophic lateral sclerosis: a proteomic study
Neuroinflammation and glycosylation-related cerebrospinal fluid proteins for predicting functional decline in amyotrophic lateral sclerosis: a proteomic study Open
Background The rate of disease progression varies widely among patients with amyotrophic lateral sclerosis (ALS). Prognostic assessment using biomarkers is highly anticipated to improve clinical trial design. We aimed to explore the cerebr…
View article: Online training program maintains motor functions and quality of life in patients with Parkinson's disease
Online training program maintains motor functions and quality of life in patients with Parkinson's disease Open
Objective Several systematic reviews have shown that physical exercise positively affects motor function (MF) and quality of life (QoL) in patients with Parkinson's disease (PD). After the coronavirus disease (COVID-19) pandemic, numerous …
View article: SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan Open
View article: Protocol for a phase 2 study of bosutinib for amyotrophic lateral sclerosis using real-world data: induced pluripotent stem cell-based drug repurposing for amyotrophic lateral sclerosis medicine (iDReAM) study
Protocol for a phase 2 study of bosutinib for amyotrophic lateral sclerosis using real-world data: induced pluripotent stem cell-based drug repurposing for amyotrophic lateral sclerosis medicine (iDReAM) study Open
Introduction Amyotrophic lateral sclerosis (ALS) is a progressive, severe neurodegenerative disease caused by motor neuron death. Development of a medicine for ALS is urgently needed, and induced pluripotent cell-based drug repurposing ide…
View article: Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report Open
View article: Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale
Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale Open
View article: Striking Efficacy of Pallidal Deep Brain Stimulation in a Patient with Predominant Abductor Laryngeal Dystonia: A Case Report
Striking Efficacy of Pallidal Deep Brain Stimulation in a Patient with Predominant Abductor Laryngeal Dystonia: A Case Report Open
View article: CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis Open
CHCHD2 and CHCHD10, linked to Parkinson's disease and amyotrophic lateral sclerosis-frontotemporal dementia (ALS), respectively, are mitochondrial intermembrane proteins that form a heterodimer. This study aimed to investigate the impact o…
View article: Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale
Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale Open
Background Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. The Primary Lateral Sclerosis Functional Rating Scale (PLSFRS) was developed in the United States of Ame…
View article: Clinical and Pathological Features of <scp>FTDP</scp>‐17 with <scp><i>MAPT</i></scp> p.K298_H299insQ Mutation
Clinical and Pathological Features of <span>FTDP</span>‐17 with <span><i>MAPT</i></span> p.K298_H299insQ Mutation Open
Background MAPT is a causative gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP‐17), a hereditary degenerative disease with various clinical manifestations, including progressive supranuclear palsy, corticoba…
View article: Constipation in patients with motor neuron disease: A retrospective longitudinal study
Constipation in patients with motor neuron disease: A retrospective longitudinal study Open
Constipation had a high prevalence in patients with MND with impaired motor function. Controlling defecation is important in patients with MND, especially during enteral nutrition.
View article: Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy Open
To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, …
View article: Nonconvulsive status epilepticus in patients with acute subarachnoid hemorrhage is associated with negative arterial spin labeling on peri-ictal magnetic resonance images
Nonconvulsive status epilepticus in patients with acute subarachnoid hemorrhage is associated with negative arterial spin labeling on peri-ictal magnetic resonance images Open
Normal ASL findings alone should not be used to exclude a diagnosis of NCSE particularly in patients in the acute phase of SAH with deterioration or no improvement in consciousness.