Case report: MRI-negative myelitis following COVID-19 with SEP abnormalities: a case series and literature review.

Coronavirus Disease 2019 (COVID-19) is known to have various, neurological manifestations. We herein report three patients with MRI-negative myelitis following COVID-19 with abnormal somatosensory evoked potentials (SEPs). Decreased amplitude of the cortical potential and prolonged latency in the SEPs contributed to diagnosing myelitis in the present patients.

[A case of non-fluent/agrammatic variant of primary progressive aphasia with logoclonia].

We report a case of non-fluent/agrammatic variant of primary progressive aphasia in a 79-year-old right-handed man who was admitted with a 5-year history of non-fluent speech and apraxia of speech. He also presented with agrammatism and logoclonia (the meaningless repetition of the middle or final syllable of a word). Furthermore, brain MRI revealed atrophy of the bilateral frontal and temporal lobes, while N-isopropyl-p-I-iodoamphetamine single-photon emission computed tomography (SPECT) revealed relative hypoperfusion in the right basal ganglia.

[Case Report: Broca's Aphasia in a Left-Handed Patient with a Right Brain Infarction and Early Stage Aphonia].

We report a case of Broca's aphasia in a left-handed patient with a right brain infarction. The patient's speech is consistent with a particular type of aphemia, that is, without vocalization except for a few phonemes or words. The patient presented with aphonia in an early stage.

Association of autoantibodies to muscarinic acetylcholine receptors with gastrointestinal symptoms and disease severity in patients with postural orthostatic tachycardia syndrome.

Previous studies have reported a relationship between postural orthostatic tachycardia syndrome (POTS) and positivity for serum autoantibodies against G-protein-coupled receptors (GPCRs). However, the role of these autoantibodies in POTS is unclear. The present retrospective study analyzed the autoimmune etiology of POTS in 24 patients using a head-up tilt test to assess for any correlation between the clinical features of POTS and serum levels of autoantibodies against diverse GPCRs.

[A case of chronic postural tachycardia syndrome with positive anti-ganglionic acetylcholine receptor (gAChR) antibody].

Postural orthostatic tachycardia syndrome (POTS) is a form of orthostatic intolerance characterized by symptoms such as lightheadedness, fainting, and brain fog that occur with a rapid elevation in heart rate when standing up from a reclining position. The etiology of POTS has yet to be established. However, a growing body of evidence suggests that POTS may be an autoimmune disorder such as autoimmune autonomic ganglionopathy, an acquired, immune-mediated form of diffuse autonomic failure.

Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report.

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the gene (c.

[Progressive supranuclear palsy-Richardson syndrome with visual attention disturbance (Holmes and Horrax) and ataxie optique (Garcin): a case report].

[Background] Supranuclear extraorbital muscle palsy is the core feature of progressive supranuclear palsy (PSP), and ordinarily presents as spontaneous vertical gaze constriction. However, higher visual function associated with visuospatial cognition in PSP patients was not previously considered. [Case presentation] We present a 72-year old right-handed man with PSP- Richardson syndrome (PSP-RS) and abnormal higher visual function.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing.

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.

We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 3291. Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. The phenotypic variation among the affected members of a single family and the mutational analysis showing maternal inheritance in a heteroplasmic fashion are consistent with well-recognized phenomena associated with many pathogenic point mutations of mtDNA tRNA genes.