Hirotake Nishimura

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Charcot-Marie-Tooth type 4B1 (CMT4B1) is a rare autosomal recessive demyelinating neuropathy caused by mutation of the myotubularin-related 2 (MTMR2) gene. It is characterized by a severe early-onset motor and sensory neuropathy, and myelin outfoldings on nerve biopsy. We describe a mild phenotype of CMT4B1 in a Japanese patient. She noticed difficulty in(More)
Sphingosine-1-phosphate (S1P), a potent lipid mediator, transduces intracellular signals through the activation of S1P receptors (S1PRs). Although S1PRs have been shown to play an important role in the central nervous system (CNS), accurate localization and the function of S1PR1 in the human CNS are still unclear. In this study, we investigated the(More)
A 21-year-old man presented with extraneural metastases to the peritoneum, pleura, bone marrow, lymph nodes, and other organs from a pulvinar high grade glioma. He had undergone a shunt operation and three tumor removals during a 6-year period. He also received radiotherapy and adjuvant chemotherapy with(More)
Cardioembolic stroke due to tumor emboli is a rare complication of neoplasm. A patient with metastatic cardiac liposarcoma who suffered from embolic stroke is reported. Autopsy confirmed that the cardiac tumor was a metastatic liposarcoma from the retroperitoneum, and the cerebral vessel was occluded by tumor cells and fibrin clot.
We report a 51-year old male with herpes simplex encephalitis (HSE) showing unusual progression and magnetic resonance (MR) findings. The initial neurological manifestation of intractable focal seizure with low-grade fever persisted for three days, and rapidly coma, myoclonic status, and respiratory failure with high-grade fever emerged thereafter. The(More)
Dear Editor, Immunoglobulin G4 (IgG4)-related lymphadenopathy is a novel clinical entity characterized by numerous IgG4 plasma cells in lymph nodes and elevated serum IgG4 levels. However, patients with hyper-interleukin 6 (IL-6) syndromes such as multicentric Castleman’s disease, rheumatoid arthritis, or other immune-mediated inflammatory conditions,(More)
BACKGROUND Chronic encapsulated intracerebral hematoma (CEIH) is one type of intracerebral hematoma that sometimes grows progressively while forming a capsule and presenting with neurological deficits. Although many cases of CEIH have been reported, correct preoperative diagnosis is very difficult. Only around 20% of cases are diagnosed preoperatively. (More)
A patient with xerostomia and xerophthalmia due to Sjögren's syndrome presented with acute motor-dominant polyneuropathy and multiple mononeuropathy with antiganglioside antibodies. Nerve conduction studies and a sural nerve biopsy revealed the neuropathy as a mixture of segmental demyelination and axonal degeneration. Positive results were obtained for(More)
Genetic testing for mutations in the WRN gene is critical for the diagnosis of Werner syndrome (WS); however, these tests cannot be performed in a clinical setting. Nearly all of the WRN mutations result in expression of truncated WRN proteins that are missing the C-terminal nuclear localization signal. We evaluated the use of WRN protein(More)