Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

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We herein report a 63-year-old rippling muscle disease (RMD) patient who presented with painless stiffness, muscle hypertrophy and muscle contractions elicited by mechanical stimulation. He also showed irregular toe jerks and a slightly elevated level of anti-acetylcholine receptor antibody (AChR-Ab). Since he had a mediastinal mass mimicking thymoma, which was later revealed to be a bronchial cyst, he underwent extended thymectomy. The irregular toe jerks disappeared within a week after the operation. The other muscle symptoms completely remitted 27 months after the onset. This is the first report of a sporadic case of RMD with irregular toe jerks that resolved after extended thymectomy.

We report a patient with severe and prolonged vertigo and ataxia caused by infarction of the bilateral cerebellar nodulus and uvula. Vertigo and nausea persisted for 2 weeks, causing the patient to remain bedridden. The patient showed upbeat nystagmus (UBN) on upward gaze and upon uprighting from the supine position and did not exhibit apogeotropic nystagmus characteristic of central paroxysmal positional nystagmus. Isolated positional UBN may be specific to an uvulo‐nodular lesion, and persistent and marked vertigo suggests extensive damage to the bilateral nodulus and uvula.