[A case of primary progressive multiple sclerosis with improvement in cognitive impairment by anti-CD20 monoclonal antibody therapy].

The patient was a 44-year-old man who developed cognitive impairment beginning at the age of 35 years that gradually worsened. The cognitive impairment led to a difficult social life, and he retired from his company. After hospitalization and workup, he was diagnosed with primary progressive multiple sclerosis (PPMS) that presented only with cognitive impairment for 10 years.

[Absence of cortical lesions after the first seizure in a patient with anti-myelin oligodendrocyte glycoprotein-associated cortical encephalitis].

A 31-year-old man developed headache and generalized convulsions. At the time of the first seizure, there was no distinct MRI abnormality. He was admitted to the hospital with repeated seizures, left-sided hemiparesis, and left-sided neglect.

[A case of meningovascular syphilis presenting with bilateral oculomotor nerve palsy, cerebral aneurysm, and cerebral hemorrhage].

The patient was a 32-year-old man with no HIV infection and possible syphilis infection at the age of 22 years. At the age of 29 years, he visited an ophthalmologist for diplopia due to right oculomotor nerve palsy. He underwent diplopia strabismus surgery for unexplained oculomotor nerve palsy.

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and repeat conformation heterogeneity (ACAGG repeat) was also recently implied. To molecularly characterize this disease in Japanese patients with adult-onset ataxia, we accumulated and screened 212 candidate families by an integrated approach consisting of flanking PCR, repeat-primed PCR, Southern blotting and long-read sequencing using Sequel II, GridION or PromethION.

Reduced dopamine transporter binding predicts early transition to Lewy body disease in Japanese patients with idiopathic rapid eye movement sleep behavior disorder.

Purpose: We examined dopamine transporter (DAT) binding in Japanese patients with idiopathic rapid eye movement sleep behavior disorder (IRBD) as a biomarker for the development of Lewy body disease (LBD).

Methods: [I]FP-CIT SPECT (DAT-SPECT) scans of 74 IRBD patients were compared to those from healthy Japanese subjects, and the predictive value for conversion to LBD during a 5-year follow-up was evaluated.

Results: Baseline DAT deficits (Z-score ≤ -2.