Satoshi Kuwabara
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View article: A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS Open
Amyotrophic lateral sclerosis (ALS) exhibits considerable clinical variability, such as differences in age at onset (AAO). Multiple factors, including genetic factors, may underlie this variability; however, the specific determinants remai…
View article: Nationwide Survey of Atopic Myelitis and Plexin <scp>D1</scp> ‐Immunoglobulin G‐Related Pain
Nationwide Survey of Atopic Myelitis and Plexin <span>D1</span> ‐Immunoglobulin G‐Related Pain Open
Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 sel…
View article: Association of baseline acetylcholine receptor antibody levels with efgartigimod treatment efficacy for patients with myasthenia gravis
Association of baseline acetylcholine receptor antibody levels with efgartigimod treatment efficacy for patients with myasthenia gravis Open
Generalized MG patients with high baseline AChR antibody levels may exhibit a superior response to efgartigimod.
View article: Revisiting ‘hot cross bun’ sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy
Revisiting ‘hot cross bun’ sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy Open
Background The purpose of this study was to clarify the usefulness of the ‘hot cross bun’ sign (HCBS) as a diagnostic imaging marker in a large cohort of patients with multiple system atrophy (MSA) and spinocerebellar ataxia (SCA). Methods…
View article: Comparative study of Japanese nationwide epidemiological studies of myasthenia gravis using datasets of 2006 and 2018
Comparative study of Japanese nationwide epidemiological studies of myasthenia gravis using datasets of 2006 and 2018 Open
Objective This study aimed to identify changes in the clinical presentation and treatment patterns of myasthenia gravis (MG) in Japan by comparing data from nationwide epidemiological surveys conducted in 2006 and 2018. Methods We analyzed…
View article: Pan-Asian consortium for treatment and research in ALS (PACTALS) guidelines for management of amyotrophic lateral sclerosis
Pan-Asian consortium for treatment and research in ALS (PACTALS) guidelines for management of amyotrophic lateral sclerosis Open
The Pan-Asian Consortium for Treatment and Research in ALS (PACTALS) guidelines were developed for the management of amyotrophic lateral sclerosis (ALS) patients living in the Asia-Pacific countries, taking into consideration the ethnic, r…
View article: Serum from patients with MuSK antibody-positive myasthenia gravis triggers transcriptomic changes leading to muscle atrophy and weakness in human myotube cells
Serum from patients with MuSK antibody-positive myasthenia gravis triggers transcriptomic changes leading to muscle atrophy and weakness in human myotube cells Open
Myasthenia gravis (MG) is an autoimmune disease characterized by autoantibodies targeting the acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK). These autoantibodies inhibit ACh signal transmission at the neuromuscula…
View article: Daratumumab (anti-CD38)- and elotuzumab (anti-SLAMF7)-based treatments for refractory POEMS syndrome: a single-center case series
Daratumumab (anti-CD38)- and elotuzumab (anti-SLAMF7)-based treatments for refractory POEMS syndrome: a single-center case series Open
Daratumumab- and elotuzumab-based regimens may be treatment options for refractory POEMS syndrome.
View article: Association between Myasthenia Gravis and Smoking
Association between Myasthenia Gravis and Smoking Open
Objective This study investigated the association between smoking and myasthenia gravis (MG), a chronic autoimmune disorder that affects neuromuscular junctions. Methods Data were collected from the Japan MG Registry 2021 survey conducted …
View article: Corticosteroid-induced Cushingoid Appearance in Myasthenia Gravis
Corticosteroid-induced Cushingoid Appearance in Myasthenia Gravis Open
Objective Corticosteroids are the primary immunosuppressants used to treat myasthenia gravis (MG). Their side effects, including Cushingoid appearance, are well documented. However, the precise relationship between corticosteroid usage and…
View article: P.033 Long-term efficacy of Efgartigimod PH20 SC in patients with chronic inflammatory demyelinating polyneuropathy: interim results from the ADHERE+ study
P.033 Long-term efficacy of Efgartigimod PH20 SC in patients with chronic inflammatory demyelinating polyneuropathy: interim results from the ADHERE+ study Open
Background: Efgartigimod, a human immunoglobulin (Ig)G1 antibody Fc fragment, blocks the neonatal Fc receptor, reducing IgGs involved in chronic inflammatory demyelinating polyneuropathy (CIDP). The multi-stage, double-blinded, placebo-con…
View article: D.7 Efgartigimod impact on I-RODS daily activity assessment in chronic inflammatory demyelinating polyneuropathy: post hoc analysis of Registrational ADHERE Study
D.7 Efgartigimod impact on I-RODS daily activity assessment in chronic inflammatory demyelinating polyneuropathy: post hoc analysis of Registrational ADHERE Study Open
Background: Efgartigimod, a human immunoglobulin (Ig)G1 antibody Fc fragment, blocks the neonatal Fc receptor, reducing IgGs involved in chronic inflammatory demyelinating polyneuropathy (CIDP), a rare, progressive, immune-mediated disease…
View article: Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome
Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome Open
Guillain-Barré syndrome is an acute polyradiculoneuropathy in which preceding infections often elicit the production of antibodies that target peripheral nerve antigens, principally gangliosides. Anti-ganglioside antibodies are thought to …
View article: Clinical and brain functional correlates of instrumental rigidity measurement in Parkinson’s disease
Clinical and brain functional correlates of instrumental rigidity measurement in Parkinson’s disease Open
Rigidity, a cardinal symptom of Parkinson's disease (PD), remains challenging to assess objectively. A torque-angle instrument was developed to quantify muscle tone, providing two parameters: bias difference and elastic coefficient. This s…
View article: Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study
Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study Open
Background The usefulness of muscle ultrasonography for detection of fasciculations has been increasingly recognised, particularly in amyotrophic lateral sclerosis (ALS). This study aimed to elucidate distributions and characteristics of f…
View article: Heterozygous <i>HTRA1</i>-related Cerebral Small Vessel Disease with Short Stature and Limbs
Heterozygous <i>HTRA1</i>-related Cerebral Small Vessel Disease with Short Stature and Limbs Open
Heterozygous HTRA1 gene variants are associated with hereditary cerebral small vessel disease (CSVD). HTRA1 also plays an important role in bone metabolism; however, its association with abnormal bone formation remains unclear. A 51-year-o…
View article: Predicting achievement of clinical goals using machine learning in myasthenia gravis.
Predicting achievement of clinical goals using machine learning in myasthenia gravis. Open
The developed MM diagnostic model can effectively predict MM or better status in MG patients, potentially guiding clinicians in determining treatment objectives and evaluating treatment outcomes.
View article: Cognitive-predominant spinocerebellar ataxia type 8 with posterior cingulate cortex hypoperfusion mimicking early-onset Alzheimer's disease: A case report
Cognitive-predominant spinocerebellar ataxia type 8 with posterior cingulate cortex hypoperfusion mimicking early-onset Alzheimer's disease: A case report Open
Spinocerebellar ataxia type 8 (SCA8) is an autosomal dominant neurodegenerative disorder caused by CTG/CAG repeat expansion in ATXN8OS/ATXN8 genes. The primary clinical feature is cerebellar ataxia, but approximately 30% of patients presen…
View article: A spectrum of neurological diseases with elevated cerebrospinal fluid adenosine deaminase levels
A spectrum of neurological diseases with elevated cerebrospinal fluid adenosine deaminase levels Open
CSF ADA levels were elevated in various inflammatory neurological diseases, especially in TBM, fungal meningitis, GFAP-A, neurosarcoidosis, and lymphoproliferative disorders. CSF ADA levels may reflect T-cell hyperactivation in the central…
View article: Cross sectional dopamine transporter imaging and myocardial sympathetic scintigraphy study in patients with dementia with Lewy bodies
Cross sectional dopamine transporter imaging and myocardial sympathetic scintigraphy study in patients with dementia with Lewy bodies Open
Background Dopamine transporter ( 123 I‐FP‐CIT) single‐photon emission tomography (SPECT) and 123 I‐meta‐iodobenzylguanidine ( 123 I‐MIBG) image play roles as indicative biomarkers in diagnosing patients with dementia with Lewy bodies (DLB…
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: Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report
Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report Open
Our patient's case indicated a split hand and minipolymyoclonus in SCA3. Clinicians should consider these extra-cerebellar manifestations in patients with SCA3. Although neither split hand nor minipolymyoclonus are likely to directly resul…
View article: Tryptophan‐immunoadsorption plasmapheresis regulates polymorphonuclear‐myeloid‐derived suppressor cells and pro‐inflammatory cytokines
Tryptophan‐immunoadsorption plasmapheresis regulates polymorphonuclear‐myeloid‐derived suppressor cells and pro‐inflammatory cytokines Open
Introduction Immunoadsorption plasmapheresis (IA) has been reported to have immunoregulatory effects, in addition to the removal of autoantibodies. This study aimed to investigate the effects of IA on the proportion of myeloid‐derived supp…