Masashi Hamada
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View article: A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a <scp> <i>DMD</i> </scp> Frameshift Variant
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a <span> <i>DMD</i> </span> Frameshift Variant Open
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf …
View article: Lecanemab for posterior cortical atrophy: Two contrasting cases
Lecanemab for posterior cortical atrophy: Two contrasting cases Open
These cases raise concerns regarding the direct application of treatment eligibility criteria developed for typical Alzheimer's disease to PCA. Clinical decision-making in PCA requires visual cognition-specific assessments that are less vu…
View article: Expert Consensus-Based Criteria for Identifying Lumbar Facet Joint Pain in Primary Care: Development Using Factor Analysis and a Modified Delphi Method
Expert Consensus-Based Criteria for Identifying Lumbar Facet Joint Pain in Primary Care: Development Using Factor Analysis and a Modified Delphi Method Open
Consensus-based diagnostic criteria for lumbar facet joint pain were developed, which offer a noninvasive, clinically practical approach to diagnosis, promoting early recognition and appropriate referral by general practitioners.
View article: In‐hospital outcomes of lacosamide versus levetiracetam for early adjunctive treatment of status epilepticus: A Nationwide Japanese retrospective cohort study
In‐hospital outcomes of lacosamide versus levetiracetam for early adjunctive treatment of status epilepticus: A Nationwide Japanese retrospective cohort study Open
Objective Status epilepticus (SE) is a neurological emergency requiring immediate treatment. Although intravenous lacosamide (LCM) is used for the management of epilepsy, its effectiveness in treating SE remains unclear. We aimed to compar…
View article: Ipsilateral and contralateral cortical control of the external oblique muscles revealed by TMS
Ipsilateral and contralateral cortical control of the external oblique muscles revealed by TMS Open
These findings suggest differential cortical control between contralateral and ipsilateral pathways in trunk muscles and provide bases for additional investigations into ipsilateral motor control.
View article: Spatiotemporal dynamics of reading Kana (syllabograms) and Kanji (morphograms)
Spatiotemporal dynamics of reading Kana (syllabograms) and Kanji (morphograms) Open
Reading engages complex neural networks integrating visual, phonological, and semantic information. The dual-stream model posits ventral and dorsal pathways for lexical and sublexical processing in the left hemisphere and is well-supported…
View article: Prevalence of idiopathic normal pressure hydrocephalus in patients with degenerative cervical myelopathy
Prevalence of idiopathic normal pressure hydrocephalus in patients with degenerative cervical myelopathy Open
Purpose Degenerative cervical myelopathy (DCM) and idiopathic normal pressure hydrocephalus (iNPH) share symptoms such as gait disturbance and urinary dysfunction, especially in the elderly. While the incidence of DCM in patients with iNPH…
View article: Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration Open
PLA2G6 -associated neurodegeneration (PLAN) encompasses a spectrum of phenotypes caused by biallelic pathogenic variants in PLA2G6 . Initially linked to infantile and atypical neuroaxonal dystrophy, PLAN now includes adult-onset conditions…
View article: Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer’s disease-related primary progressive aphasia
Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer’s disease-related primary progressive aphasia Open
Alzheimer’s disease (AD)-related primary progressive aphasia (PPA) exhibits considerable heterogeneity in clinical presentation and neuroimaging patterns. No studies have quantitatively assessed cerebral perfusion patterns or systematicall…
View article: A subgroup of multiple system atrophy with rapid decline in vital capacity
A subgroup of multiple system atrophy with rapid decline in vital capacity Open
A decline in %VC with disease duration was observed in both MSA and PSP, with greater variation observed in MSA. Notably, a rapid decline in %VC was predominantly observed in patients with MSA-P during the early courses.
View article: SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report
SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report Open
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the …
View article: Favorable outcomes of epilepsy with gait-induced seizures after resection of the unilateral supplementary motor area
Favorable outcomes of epilepsy with gait-induced seizures after resection of the unilateral supplementary motor area Open
This is the first reported case of successful resective surgery for epilepsy with gait-induced seizure. Brain networks involving cortical regions responsible for the initiation or execution of walking presumably played a key role in the ge…
View article: Contact Aspiration Combined with a Stent Retriever versus Contact Aspiration Alone in Mechanical Thrombectomy for Acute Ischemic Strokes: A Nationwide Analysis Using the Diagnosis Procedure Combination Database
Contact Aspiration Combined with a Stent Retriever versus Contact Aspiration Alone in Mechanical Thrombectomy for Acute Ischemic Strokes: A Nationwide Analysis Using the Diagnosis Procedure Combination Database Open
The proportion of patients with ICH did not differ significantly between the CA + SR group and CA groups. CA + SR was associated with worse functional outcomes, higher in-hospital mortality, and higher costs.
View article: Oral applause sign in progressive supranuclear palsy
Oral applause sign in progressive supranuclear palsy Open
The applause sign (AS) is a recognized phenomenon observed in progressive supranuclear palsy (PSP) and other neurological conditions where individuals produce over three claps following a request to clap only thrice after a demonstration. …
View article: Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the <scp>MDS</scp> Clinical Neurophysiology Study Group
Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the <span>MDS</span> Clinical Neurophysiology Study Group Open
Background Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and…
View article: Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody
Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody Open
Anti-GM1 antibodies are associated with Guillain-Barré syndrome (GBS), primarily peripheral neuropathy. However, there are cases of anti-GM1 IgG antibody-positive GBS with upper motor neuron (UMN) signs. We herein report a case of gastroin…
View article: Treatment of Cryptogenic New-onset Refractory Status Epilepticus (C-NORSE) with Tocilizumab
Treatment of Cryptogenic New-onset Refractory Status Epilepticus (C-NORSE) with Tocilizumab Open
A 35-year-old woman with no prior history of epilepsy developed status epilepticus (SE), which was highly resistant to multiple antiseizure medications and sedatives. The etiology of SE was not identified despite extensive investigation, a…
View article: Global Perceptions and Utilization of Clinical Neurophysiology in Movement Disorders
Global Perceptions and Utilization of Clinical Neurophysiology in Movement Disorders Open
Background Clinical neurophysiology (CNP) involves the use of neurophysiological techniques to make an accurate clinical diagnosis, to quantify the severity, and to measure the treatment response. Despite several studies showing CNP to be …
View article: Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2
Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2 Open
Neuronal 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…
View article: Correlating active and resting motor thresholds for transcranial magnetic stimulation through a matching model
Correlating active and resting motor thresholds for transcranial magnetic stimulation through a matching model Open
Dear Editor, Transcranial magnetic stimulation (TMS) can relatively focally elicit action potentials in cortical neurons in the brain. Sufficiently strong pulses over the primary motor cortex can trigger cortico-spinal output signals leadi…