Hiroyuki Ishiura
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View article: Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant
Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant Open
[This corrects the article DOI: 10.1212/NXG.0000000000200293.].
View article: Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3 Open
CST3 (NM_000099.4) encodes cystatin C, whose C-terminal truncating variants in this gene have recently been reported to cause adult-onset leukoencephalopathy, characterized by headaches, transient neurological symptoms, and distinct imagin…
View article: <i>INF2</i>‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
<i>INF2</i>‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights Open
Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2 ‐related FSGS is typically resistant to immunotherapy yet rarely recurs after …
View article: Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant Open
This report highlights the clinically mild cases of VWM with subtle abnormalities on brain MRI who had the homozygous c.254T >A in EIF2B2, further expanding the clinical spectrum of VWM and underscoring the importance of genetic ass…
View article: Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology
Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive degeneration of motor neurons. ALS pathology primarily involves the failure of protein quality control mechanisms, leading to the ac…
View article: Subacute Progression of Gait Disturbance and Consciousness Impairment Due to Communicating Hydrocephalus Associated With Vestibular Schwannoma
Subacute Progression of Gait Disturbance and Consciousness Impairment Due to Communicating Hydrocephalus Associated With Vestibular Schwannoma Open
Patients with vestibular schwannomas (VSs) present with vestibulocochlear nerve dysfunction such as vertigo and tinnitus. VSs occasionally develop communicating hydrocephalus as a complication, which is typically characterized by an insidi…
View article: Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected"
Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected" Open
View article: Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy Open
Biallelic loss-of-function variants in CLCN2 lead to CLCN2-related leukoencephalopathy (CC2L), also called leukoencephalopathy with ataxia (LKPAT). CC2L is characterized clinically by a spectrum of clinical presentations including childhoo…
View article: Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints
Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints Open
Oculopharyngodistal myopathy (OPDM) is a rare muscular disorder characterized by ocular symptoms, pharyngeal symptoms, facial weakness, and distal predominant limb muscle weakness. The cause of the disease was unknown for a long time. Rece…
View article: In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy Open
Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1 , exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame …
View article: Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia Open
Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7…
View article: The potential mechanism maintaining transactive response DNA binding protein 43 kDa in the mouse stroke model
The potential mechanism maintaining transactive response DNA binding protein 43 kDa in the mouse stroke model Open
The disruption of transactive response DNA binding protein 43 kDa (TDP-43) shuttling leads to the depletion of nuclear localization and the cytoplasmic accumulation of TDP-43. We aimed to evaluate the mechanism underlying the behavior of T…
View article: Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of <i>SYNE1</i> in Japanese Families
Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of <i>SYNE1</i> in Japanese Families Open
Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a neurodegenerative disorder caused by the biallelic pathogenic variants of SYNE1. It is characterized by slowly progressive cerebellar ataxia and atrophy. We identified two SCAR8 fam…
View article: Molecular genetics of benign adult familial myoclonus epilepsy
Molecular genetics of benign adult familial myoclonus epilepsy Open
Benign adult familial myoclonus epilepsy (BAFME) is an autosomal dominantly inherited disease characterized by infrequent seizures and tremorous myoclonus. The disease is also called familial adult myoclonic epilepsy (FAME) or familial cor…
View article: Efficient variant phasing utilizing a replication cycle reaction system
Efficient variant phasing utilizing a replication cycle reaction system Open
View article: First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1
First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1 Open
View article: Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan Open
In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop…
View article: Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis Open
Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. Pathogenic variants in SPTLC1 , encoding a subunit of serine palmitoyltransferase, cause hereditary sensory and autonomic neu…
View article: Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy Open
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-do…
View article: Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population Open
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (≥250 repeat units) in intron 1 of FGF14 have been sh…
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: Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome
Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome Open
We herein report a case of reversible cerebral vasoconstriction syndrome (RCVS) with an unusual presentation of hyperdense blood vessels. A 53-year-old woman developed thunderclap headache. Brain computed tomography (CT) showed hyperdensit…
View article: A novel de novo disease‐causing variant in <i>ATL1</i> in a pediatric patient with spastic paraplegia
A novel de novo disease‐causing variant in <i>ATL1</i> in a pediatric patient with spastic paraplegia Open
View article: Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome- Open
View article: A Novel <i>De Novo</i> Variant in <i>KCNH5</i> in a Patient with Refractory Epileptic Encephalopathy
A Novel <i>De Novo</i> Variant in <i>KCNH5</i> in a Patient with Refractory Epileptic Encephalopathy Open
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 resona…
View article: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome- Open
View article: Correction to: RFC1‑related disorder presenting recurrent syncope
Correction to: RFC1‑related disorder presenting recurrent syncope Open
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: The Japan <scp>MSA</scp> registry: A multicenter cohort study of multiple system atrophy
The Japan <span>MSA</span> registry: A multicenter cohort study of multiple system atrophy Open
Background Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure and various motor symptoms. While MSA‐C (cerebellar type) predominates in East Asia, MSA‐P (parkinsonian type) predominates in Euro…
View article: Efficient variant phasing utilizing a replication cycle reaction system
Efficient variant phasing utilizing a replication cycle reaction system Open
When two heterozygous variants are detected in genes for diseases with autosomal recessive inheritance, determining whether the two variants are located in cis or in trans is crucial. Subcloning long-range PCR products or cDNA is limited b…