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 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)
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)
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)
We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had a systemic carnitine deficiency syndrome. The patient(More)
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