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Mutation analysis of ATP13A2 in early-onset parkinsonism patients

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Neural Regeneration Research 2008年第4期3卷 418-421页

作者： Yuping Ning Hiroyuki Tomiyama Yuanzhe Li Manabu Funayama Hiroyo Yoshino Shigeto Sato Yoshikuni Mizuno nobutaka hattori Department of Neurology Guangzhou Brain Hospital Guangzhou 510370 Guangdong Province China Department of Neurology Juntendo University School of Medicine Tokyo 113-8421 Japan Research Institute for Diseases of Old Ages Juntendo University School of Medicine Tokyo 113-8421 Japan

BACKGROUND： A recent study has found that ATP13A2 is the causative gene for PARK9-linked autosomal recessive early-onset parkinsonism, described previously in Jordanian and Chilean families （Kufor-Rakeb syndrome）. OBJECTIVE： To screen eastern Asian patients with early-onset parkinsonism for mutations in ATP13A2 and to describe positron emission tomography （PET） findings of PARK9-linked parkinsonism. DESIGN, TIME AND SETTING： In total, 117 patients were selected from the Department of Neurology, Juntendo University, from February 2003 to October 2006, for this molecular genetics and case-control study. PARTICIPANTS： The patients with parkinsonism consist of two cohorts. Ninety four patients with onset age of less than 30 years were selected for the first cohort. They included 49 males and 44 females, comprising 73 Japanese, 9 Korean, 8 Taiwan Residents, and 4 Mainland Chinese. Eleven patients had parkinsonism complicated with dementia, 15 patients had family histories of parkinsonism （including 2 families）, and 5 patients were from consanguineous parents （including one family）. The second cohort of 23 patients was composed of patients with consanguineous parents （n = 15） or who had affected siblings （n = 6） or both （n = 2）, but the age at onset ranged from 30 to 50 years. METHODS： In 117 patients with parkinsonism, direct sequencing of ATP13A2 exons 13, 16, and 26, in which mutations had been reported previously, were performed. Sequencing was also performed in all 29 exons, including splice sites, in 28 probands who showed homozygosity at the PARK9 locus by haplotype analysis. Mutation analysis was also performed in 150 normal people. Linkage analysis was performed on all 3 parkinsonism families using short tandem repeat markers flanking the PARK9 locus. For patients who had ATP13A2 mutation, we performed brain MRI and ^18F-dopa PET scans. MAIN OUTCOME MEASURES： ATP13A2 DNA sequence, ^18F-dopa PET scan and brain MRI findings. RESULTS： A novel F182L mutation in a con

关键词： early-onset parkinsonism mutation ATP13A2

Differences between Istradefylline Responders and Non-Responders in Parkinson’s Disease

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Advances in Parkinson's Disease 2017年第2期6卷 45-51页

作者： Asako Yoritaka nobutaka hattori Department of Neurology Juntendo University Koshigaya Hospital Saitama Japan Department of Neurology Juntendo University School of Medicine Tokyo Japan

Background: Istradefylline is a selective adenosine A2A receptor antagonist approved for Parkinson’s disease (PD) patients with wearing-off symptoms. The Japanese phase III trial showed that 20 mg of orally administrated istradefylline decreased the Off-time. However, istradefylline showed prominent effects in some patients and no benefits in others. We examined the differences in characteristics between responders and non-responders who received 8 weeks of 20 mg/day istradefylline. Methods: Thirty-one patients were enrolled (age, 65.4 [SD 10.4] years;disease duration, 10.4 [SD 6.1] years;daily levodopa dosage, 553.2 [SD 228.7] mg;frequency of levodopa consumption, 4.7 [SD 1.5] times;levodopa equivalent dose, 811.2 [SD 307.5] mg). Results: There were significant differences (p Conclusions: Younger or female patients who are not excessively sleepy during daytime are better candidates for the istradefylline therapy.

关键词： Parkinson’s Disease Istradefylline Adenosine A2A Receptor Antagonist Wearing-Off Sleepiness

Nigrostriatal Degeneration in Parkinson Disease: Evaluation by Diffusion Tensor Tract-Specific Analysis

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Open Journal of Radiology 2015年第4期5卷 199-204页

作者： Alina Abulaiti Koji Kamagata Yumiko Motoi Masaaki Hori nobutaka hattori Shigeki Aoki Department of Radiology Juntendo University Graduate School of Medicine Tokyo Japan Department of Neurology Juntendo University Graduate School of Medicine Tokyo Japan

Diffusion tensor tractography was used to evaluate whether diffusion metrics in the nigrostriatal pathway could diagnose Parkinson disease. Diffusion tensor imaging was performed on 30 patients with Parkinson disease and 32 healthy controls by using a 3.0 Tesla magnetic resonance imaging system. Diffusion tensor tractography was used for both groups to visualize the nigrostriatal and corticospinal tracts. The fractional anisotropy (FA) and mean diffusivity (MD) of the tracts were evaluated. Receiver operating characteristic (ROC) analysis was used to determine whether diffusion metrics of the nigrostriatal pathway could be used to diagnose Parkinson disease. Mean FA values (±SD) of the nigrostriatal tract in Parkinson disease patients (0.41 ± 0.025) were significantly lower than those in the control group (0.43 ± 0.022;p = 0.00068) and showed a sensitivity of 66.7% and specificity of 60%. There were no significant differences in the MD values of the nigrostriatal tract or the FA and MD values of the corticospinal tract between Parkinson disease patients and the control group. FA values of the nigrostriatal pathway in Parkinson disease patients were significantly lower than those in normal, healthy individuals. Reduced FA was generally thought to reflect neuronal loss, gliosis, or demyelination of nerve fibers. This result might provide a useful measure for diagnosing Parkinson disease and evaluating patients’ clinical condition.

关键词： Nigrostriatal Pathway Diffusion MRI Neurodegenerative Disorders Parkinson Disease

Posterior reversible encephalopathy syndrome induced after blood transfusion for severe anemia

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Case Reports in Clinical Medicine 2013年第5期2卷 332-334页

作者： Kei-ichiro Wada Masayoshi Kano Yutaka Machida nobutaka hattori Hideto Miwa Department of Neurology Juntendo University Nerima Hospital Tokyo Japan Department of Neurology Juntendo University Nerima Hospital Tokyo Japan Department of Neurology Juntendo University School of Medicine Tokyo Japan

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome characterized by headache, confusion, seizures, and cortical visual loss, as well as subcortical edema without infarction on neuroimaging. We report a 56-year-old woman who developed typical manifestations of PRES, 6 days after blood transfusion for severe anemia. Acute volume overloads by transfusion may exceed the capacity of autoregulation of perfusion pressure, possibly resulting in vasogenic edema. We propose that it is clinically important to recognize that rapid correction of anemia by blood transfusion may carry the risk of inducing PRES.

关键词： Posterior Reversible Encephalopathy Syndrome Anemia Blood Transfusion

Five-Year Outcomes of Bilateral Subthalamic Nucleus Stimulation in Japanese Patients with Parkinson’s Disease

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Advances in Parkinson's Disease 2015年第2期4卷 21-27页

作者： Atsushi Umemura Miwako Miyata Yuichi Oka Kenji Okita Genko Oyama Yasushi Shimo nobutaka hattori Department of Research and Therapeutics for Movement Disorders Juntendo University Graduate School of Medicine Tokyo Japan Department of Neurosurgery Juntendo University Graduate School of Medicine Tokyo Japan Health Assistant Information Technology Course Department of Human Care Engineering Faculty of Health Science Nihon Fukushi University Aichi Japan Department of Neurosurgery Nagoya City University Graduate School of Medicine Nagoya Japan Department of Neurology Nagoya City University Graduate School of Medicine Nagoya Japan Department of Neurology Juntendo University Graduate School of Medicine Tokyo Japan

Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is widely performed for medically refractory Parkinson’s disease (PD). Several western studies have examined the long-term outcomes of STN DBS. However, the long-term outcomes in Japanese patients have not been reported. Methods: We studied the long-term outcomes of STN DBS in Japanese patients with PD. Fifty-five consecutive patients treated with bilateral STN DBS were followed for 5 years after surgery. Each patient underwent Unified Parkinson’s Disease Rating Scale assessments preoperatively and 1 and 5 years after surgery. Results: Twelve patients (22%) were lost to follow up within 5 years. Among them, 7 died and 5 became bed ridden because of PD deterioration. In the 43 patients followed for 5 years, STN DBS significantly improved motor function. The cardinal motor symptoms of tremor, rigidity, and bradykinesia in medication-on periods were significantly better than baseline 5 years after DBS. However, axial motor symptoms of speech, gait and postural stability gradually deteriorated and significantly worsened 5 years after DBS. Motor complications, including dyskinesia and motor fluctuations, significantly improved after DBS with a marked reduction in dopaminergic medication. These effects were maintained 5 years after DBS. Frequently, persisting adverse effects included apraxia of eyelid opening and dysarthria. Conclusions: STN DBS significantly improved motor symptoms in patients with advanced PD. These effects were maintained over 5 years in most patients. However, some showed rapid PD progression even after STN DBS. Other treatments for the axial symptoms and disease progression are needed in long-term PD treatment.

关键词： Deep Brain Stimulation Subthalamic Nucleus Parkinson’s Disease Long-Term Outcome Adverse Effect

Resection of Multiple Neurinomas of the Cauda Equina Improves Normal Pressure Hydrocephalus

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Open Journal of Modern Neurosurgery 2012年第3期2卷 54-57页

作者： Atsuhito Fuse Kenya Nishioka Hideki Shimura Wataru Manabe Ryota Tanaka nobutaka hattori Takao Urabe Department of Neurology Juntendo University Urayasu Hospital Chiba Japan Department of Neurology Jutendo University School of Medicine Tokyo Japan Department of Orthopedic Surgery Jutendo University Urayasu Hospital Chiba Japan

Normal pressure hydrocephalus (NPH) is a treatable neurological condition characterized by dementia, gait disturbances, and urinary incontinence. This case study aimed to evaluate the effectiveness of surgical intervention in treating NPH associated with spinal cord tumors. A patient suffering with NPH underwent a spinal tap procedure and surgical resectioning of three neurinomas on the cauda equina. The patient exhibited marked improvement in neurological and motor symptoms related to NPH following surgical intervention. These findings suggest that surgical resectioning of neurinomas is an effective intervention for treating NPH associated with spinal cord tumors.

关键词： Normal Pressure Hydrocephalus Spinal Cord Tumor Dementia Neurinoma

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气相聚丙烯工艺

金山油化纤 1987年第2期 61-65页

作者： nobutaka hattori 杨华琮北京石科院

自七十年代后期以来,由于需要量的增加,以及由 Solvay、三井油化-Montedison等研制的新型催化剂的出现和 BASF、Amoco,三井油化-Himont 等研究的新生产工艺,聚丙烯装置量有很大的增加。特别是在欧洲和美国,新建、扩建和废弃重建了许多... 详细信息

自七十年代后期以来,由于需要量的增加,以及由 Solvay、三井油化-Montedison等研制的新型催化剂的出现和 BASF、Amoco,三井油化-Himont 等研究的新生产工艺,聚丙烯装置量有很大的增加。特别是在欧洲和美国,新建、扩建和废弃重建了许多聚丙烯装置。如表1所见,世界聚丙烯

关键词：聚丙烯颗粒第三代脱灰除灰无规聚丙烯气相

Direct-measuring method of vapor pressure

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Direct-measuring method of vapor pressure