Junpei Kobayashi

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We report the case of a 52-year-old man with late-onset dentatorubral-pallidoluysian atrophy (DRPLA). MRI findings of late-onset DRPLA usually showed the involvement of cerebral white matter lesions with high intensity on T2-weighted images (WI), in addition to brainstem, globus pallidus, and thalamus. But our patient did not present with abnormal(More)
We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known(More)
Spinal segmental myoclonus is defined as a rare involuntary movement characterized by myoclonic jerks of spinal origin. We describe the case of a 62-year-old woman who developed spinal segmental myoclonus 4 months after undergoing cervical laminoplasty for ossification of the posterior longitudinal ligament. Myoclonic jerks were observed in the upper(More)
OBJECTIVE Considerable inconsistencies regarding the vibratory pattern of the vocal fold among patients with unilateral vocal fold paralysis (UVFP) have been reported. These differences are derived from differences in the position, stiffness, and atrophy of the paralyzed vocal fold and other factors among patients. The purpose of this study was to assess(More)
OBJECTIVE To determine whether (18)F-THK5351 PET can be used to visualize tau deposits in brain lesions in live patients with corticobasal syndrome (CBS). METHODS We evaluated the in vitro binding of (3)H-THK5351 in postmortem brain tissues from a patient with corticobasal degeneration (CBD). In clinical PET studies, (18)F-THK5351 retention in 5 patients(More)
Endosomal sorting required for transport (ESCRT) complexes orchestrate endo-lysosomal sorting of ubiquitinated proteins, multivesicular body formation and autophagic degradation. Defects in the ESCRT pathway have been implicated in many neurodegenerative diseases, but the underlying molecular mechanisms that link them to neurodegeneration remain unknown. In(More)
AIM The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. METHOD Clinical courses, responses to antiepileptic drugs, outcomes, and genetic testing were investigated in 17 Japanese patients (nine males, eight females, median age 1y, range birth-45y) with hyperekplexia. RESULTS In all patients,(More)
BACKGROUND Pontine infarcts can be classified into four regions based on the vascular anatomy: anteromedial, anterolateral, lateral and posterior. The purpose of this study was to determine if different etiological mechanisms are responsible for these four types of pontine infarcts. METHODS We studied consecutive patients within 7 days of symptom onset(More)
Myoclonus can be caused from a variety of central nervous system disorders. With regard to its pathophysiology, much work has been done in adult patients, but reports from pediatric clinics are scarce. We describe the clinical and electrophysiological features of four different types of myoclonus in children using back averaging technique. In a patient with(More)