Guillain-Barré syndrome after SARS-CoV-2 infection.

We herein report a case of Guillain-Barré syndrome (GBS) after SARS-CoV-2 infection. The patient was a close contact with a SARS-CoV-2 patient. Initially, she did not have any symptoms and quarantined at a hotel.

Recurrent Lobar Hemorrhages and Multiple Cortical Superficial Siderosis in a Patient of Alzheimer's Disease With Homozygous APOE ε2 Allele Presenting Hypobetalipoproteinemia and Pathological Findings of F-THK5351 Positron Emission Tomography: A Case Report.

In Alzheimer's disease, the apolipoprotein E gene ε2 allele is a protective genetic factor, whereas the ε4 allele is a genetic risk factor. However, both the ε2 and the ε4 alleles are genetic risk factors for lobar intracerebral hemorrhage. The reasons for the high prevalence of lobar intracerebral hemorrhage and the low prevalence of Alzheimer's disease with the ε2 allele remains unknown.

Lacosamide-induced sinus node dysfunction followed by severe agranulocytosis.

Background: Lacosamide (LCM) is the antiepileptic drug approved by the U.S. Food and Drug Administration in 2008 that facilitates slow activation of the voltage-gated sodium channels.

Cerebral Microbleeds, Cerebrospinal Fluid, and Neuroimaging Markers in Clinical Subtypes of Alzheimer's Disease.

Lobar cerebral microbleeds (CMBs) in Alzheimer's disease (AD) are associated with cerebral amyloid angiopathy (CAA) due to vascular amyloid beta (Aβ) deposits. However, the relationship between lobar CMBs and clinical subtypes of AD remains unknown. Here, we enrolled patients with early- and late-onset amnestic dominant AD, logopenic variant of primary progressive aphasia (lvPPA) and posterior cortical atrophy (PCA) who were compatible with the AD criteria.

Porphyrins ameliorate spinocerebellar ataxia type 36 GGCCTG repeat expansion-mediated cytotoxicity.

Spinocerebellar ataxia type 36 (SCA36) is a noncoding repeat expansion disorder caused by an expanded GGCCTG hexanucleotide repeat (HNR) in the first intron of the nucleolar protein 56 (NOP56) gene. Another disease-causing HNR expansion derived from C9orf72-linked GGGGCC repeats that form G-quadruplexes (GQs) affects genetic stability, RNA splicing, and mRNA localization within neurites. The porphyrin derivative TMPyP4 was shown to ameliorate RNA toxicity caused by GGGGCC HNR expansion by binding and distorting RNA GQ structures.

Differential and quantitative neuroimaging characteristics of inclusion body myositis.

In clinical settings, it is often difficult to distinguish inclusion body myositis (IBM) from other neuromuscular diseases. In order to clarify clinically useful characteristics for making the differential diagnosis of IBM, we performed clinical, epidemiological, and neuroimaging analyses in patients with various types of neuromuscular disorders. We enrolled 333 patients with myopathy and 12 patients with amyotrophic lateral sclerosis (ALS) who had been hospitalized in our department from January 1, 1979, to December 31, 2018.

Noninvasive and quantitative evaluation of movement disorder disability using an infrared depth sensor.

Cerebellar ataxia and Parkinson's disease are neurodegenerative disorders clinically characterized by motor disabilities including gait disturbance. This study aimed to investigate the usefulness of an infrared depth sensor device to quantitatively evaluate gait disturbances in patients with movement disorders. 25 ataxic, 25 Parkinson's disease, and 25 control subjects were enrolled and evaluated their walk.

Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity.

A hexanucleotide GGCCTG repeat expansion in intron 1 of the nucleolar protein 56 gene causes spinocerebellar ataxia type 36 (SCA36), which is a relatively pure cerebellar ataxia with progressive motor neuron involvement. In this study SCA36 cell models were generated by introducing expanded GGCCTG/CAGGCC repeats into cultured Neuro2A cells. Sense (GGCCUG) but not antisense (CAGGCC) RNA foci were detected in the cells, consistent with observations in autopsied brains of patients with SCA36.

[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

A 23-year-old man experienced numbness in the perioral region and right arm, and right leg weakness on the second day after drinking a large amount of alcohol during foreign travel. His symptoms disappeared but then reappeared repetitively. Cerebral MRI performed on the third day after onset showed multiple white matter lesions; however, these lesions disappeared 26 days after onset.

An analysis of prognostic factors after percutaneous endoscopic gastrostomy placement in Japanese patients with amyotrophic lateral sclerosis.

A percutaneous endoscopic gastrostomy (PEG) is an useful intervention for feeding of amyotrophic lateral sclerosis (ALS) patients who have lost oral intake function. The aim of this study was to investigate the risk factors for early death and the survival after PEG placement. A total of 102 ALS patients who underwent PEG placement were enrolled in this study.

Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.

A 24-year-old Japanese woman developed anterocollis, weakness of the proximal arms, and subsequent cognitive impairment. A neurological examination revealed amyotrophic lateral sclerosis (ALS) without a family history. Systemic muscle atrophy progressed rapidly.

Anti-Hu Antibody-associated Paraneoplastic Neurological Syndrome Showing Peripheral Neuropathy and Atypical Multifocal Brain Lesions.

A 64-year-old Japanese woman presented with a three-month history of progressive numbness and weakness of the lower extremities. A neurological examination and nerve conduction study indicated sensorimotor polyneuropathy. Since the serum anti-Hu antibody titer was remarkably elevated, paraneoplastic neurological syndrome was highly suspected.

Anti-MuSK Antibody-positive Myasthenia Gravis Mimicking Amyotrophic Lateral Sclerosis.

We herein investigated the clinical features of three patients with anti-muscle-specific tyrosine kinase (MuSK) antibody-positive myasthenia gravis (MG), which was initially difficult to distinguish from amyotrophic lateral sclerosis (ALS). The patients exhibited dropped head syndrome or dysphagia as initial symptoms. Although their clinical findings were compatible with the revised El Escorial Criteria for ALS, their progression appeared to be more rapid than that of ALS.

Parkinson's disease presenting with oculogyric crisis in the off period.

We herein report the case of a 67-year-old Japanese man diagnosed with sporadic Parkinson's disease (PD) at 52 years of age who presented with oculogyric crisis (OGC) in the off period. Ordinarily, OGC is caused by postencephalitic parkinsonism or the chronic use of antidopaminergic medications. The OGC began at 65 years of age and was associated with the wearing-off of symptoms.

Changes in the clinical features of amyotrophic lateral sclerosis in rural Japan.

Objective: To assess longitudinal changes in the clinical features of patients with amyotrophic lateral sclerosis (ALS), we performed a retrospective hospital-based study covering 35 years.

Methods: We investigated 287 patients (154 men and 133 women) with sporadic ALS hospitalized at the Department of Neurology at Gunma University Hospital (Japan) between 1978 and 2012. All patients fulfilled the diagnostic criteria for definitive, probable or laboratory-supported probable ALS according to the revised El Escorial criteria.

Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.

We studied seven cases of Alzheimer's disease (AD). Six of the patients had presenilin 1 (PS1) mutations (PS1AD). Three novel PS1 mutations (T99A, H131R and L219R) and three other missense mutations (M233L, H163R and V272A) were found in the PS1AD group.

Reduced expression of BTBD10 in anterior horn cells with Golgi fragmentation and pTDP-43-positive inclusions in patients with sporadic amyotrophic lateral sclerosis.

Overexpression of BTBD10 (BTB/POZ domain-containing protein 10) suppresses G93A-superoxide dismutase 1 (SOD1)-induced motor neuron death in a cell-based amyotrophic lateral sclerosis (ALS) model. In the present study, paraffin sections of spinal cords from 13 patients with sporadic ALS and 10 with non-ALS disorders were immunostained using a polyclonal anti-BTBD10 antibody. Reduced BTBD10 expression in the anterior horn cells was more frequent in spinal cords from ALS patients than in cords from patients with non-ALS disorders.

Encephalopathy with amyloid angiopathy and numerous amyloid plaques with low levels of CSF Aβ1-40/Aβ1-42.

A middle-aged male suffering from encephalopathy with cerebral amyloid angiopathy (CAA) with amyloid beta (Aβ) presented with initial symptoms of transient consciousness disturbance and left visual field photophobia. Lesions with aberrantly high signal on T2-weighted magnetic resonance imaging (MRI) of the brain appeared in the right temporal lobe posterior to the occipital lobe and spread to other areas. Brain biopsy revealed Aβ deposits in vascular walls and numerous diffuse plaques in parenchymal areas.

[A case of POEMS syndrome associated with Waldenström's macroglobulinemia and treated with lenalidomide].

This report deals with a 46-year-old male with Waldenström's macroglobulinemia (WM), who developed POEMS syndrome four years after diagnosis. The patient was diagnosed with WM, based on the presence of IgM-κ type monoclonal (M) protein and infiltration of lymphoplasmacytic cells identified in bone marrow aspirates. Four years later, the patient presented with progressive weakness and paresthesia of the limb extremities, and he was admitted to our hospital.

A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart. GJA1 (the gap junction protein α-1) has been determined to be a causative gene of ODDD, mapped to chromosome 6q22-24 identified as the connexin 43 gene (Cx43). We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance.

[Reversible posterior leukoencephalopathy syndrome associated with carbamazepine-induced hypertension].

A 21-year-old man developed idiopathic trigeminal neuralgia, and was admitted to our hospital. Although neuralgia was promptly resolved after oral carbamazepine (CBZ) administration, he developed arterial hypertension (from 110/60 mmHg to 170/126 mmHg) followed by consciousness disturbance several days after the initiation of carbamazepine. MRI T2-weighted, FLAIR and ADC images demonstrated transient hyperintense lesions of the bilateral fronto-parieto-occipital subcortical white matter.