The Japanese Society of Internal Medicine
Acta Medica Okayama
0918-2918
62
3
2023
Actual Telemedicine Needs of Japanese Patients with Neurological Disorders in the COVID-19 Pandemic
365
371
EN
Ryo
Sasaki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Taijun
Yunoki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumiko
Nakano
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yusuke
Fukui
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mami
Takemoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryuta
Morihara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Koji
Abe
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Toru
Yamashita
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Objective During the coronavirus disease 2019 (COVID-19) pandemic, many social activities have moved online using applications for digital devices (e.g. computers, smartphones). We investigated the needs of telemedicine and trends in medical status and social care situations of Japanese patients with neurological disorders in order to estimate their affinity for an online telemedicine application. Methods We designed an original questionnaire for the present study that asked participants what problems they had with hospital visits, how the COVID-19 pandemic had affected their lives, and whether or not they would like to receive telemedicine.Patients The present study included volunteer caregivers, participants with Parkinson's disease (PD), epiamyotrophic lateral sclerosis (ALS), headache, myopathy, and other neurological diseases from Okayama University Hospital. Results A total of 29.6% of patients wanted to use telemedicine. Patients with ultheadaches (60.0%) and epilepsy (38.1%) were more likely to want to use telemedicine than patients with PD (17.8%) or stroke (19.0%). Almost 90% of patients had access to a digital device, and there was no association between favoring telemedicine, ownership of a digital device, hospital visiting time, or waiting time at the hospital, although age was associated with motivation to telemedicine use (52.6 vs. 62.2 years old, p < 0.001). Conclusion We can contribute to the management of the COVID-19 pandemic and the medical economy by promoting telemedicine, especially for young patients with headaches or epilepsy.
No potential conflict of interest relevant to this article was reported.
Karger
Acta Medica Okayama
1662-680X
14
3
2022
Serial Magnetic Resonance Imaging and Magnetic Resonance Angiographic Findings of Reversible Cerebral Vasoconstriction Syndrome Associated with Postpartum
413
418
EN
Yumiko
Nakano
Department of Neurology, National Hospital Organization Okayama Medical Center
Shunya
Fujiwara
Department of Neurology, National Hospital Organization Okayama Medical Center
Yoshio
Omote
Department of Neurology, National Hospital Organization Okayama Medical Center
Motonori
Takamiya
Department of Neurology, National Hospital Organization Okayama Medical Center
Hisashi
Narai
Department of Neurology, National Hospital Organization Okayama Medical Center
Yasuhiro
Manabe
Department of Neurology, National Hospital Organization Okayama Medical Center
We report 2 cases of reversible cerebral vasoconstriction syndrome (RCVS) associated with postpartum. In case 1, a 26-year-old woman developed sudden-onset headache, nausea, and vomiting 1 h after an uncomplicated vaginal delivery. In case 2, a 27-year-old woman developed generalized seizures 9 days after an uncomplicated vaginal delivery. In both cases, initial angiographic studies showed no significant vasoconstriction; however, repeat studies revealed reversible vasoconstriction. Serial magnetic resonance imaging (MRI) revealed transient brain lesions during 6 months. RCVS remains poorly characterized, misdiagnosed, and under-recognized. Serial MRI and magnetic resonance angiographic findings may contribute to diagnosis of RCVS.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
2049-4173
11
1
2022
Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy
58
60
EN
Yumiko
Nakano
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Yuki
Taira
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Ryo
Sasaki
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Koh
Tadokoro
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Taijun
Yunoki
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Emi
Nomura
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Yusuke
Fukui
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Mami
Takemoto
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Ryuta
Morihara
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Nobuyuki
Shimozawa
Division of Genomics Research, Life Science Research Center, Gifu university
Toru
Yamashita
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
X-linked adrenoleukodystrophy (ALD) is a major peroxisomal disorder, in which abnormal accumulation of very long-chain fatty acids (VLCFA) caused by ABCD1 gene mutation results in damage to the peripheral and central nervous system and adrenal gland. While affected male patients with ALD present severe neurological symptoms, some female carriers slowly develop spastic gait and urinary incontinence. We report a case of a symptomatic female ALD carrier with a novel ABCD1 gene mutation. She has developed progressive gait disturbance since age 40, and her father and sister had similar symptoms. When admitted to our hospital at age 66, blood analysis showed slight increase of VLCFA, and DNA analysis of ABCD1 gene revealed a novel heterozygous missense mutation (c.1700 A>C, p.Gln567Pro). The genetic testing for ABCD1 gene can be considered in female patients over middle age presenting spastic gait, because female ALD carriers tend to be symptomatic beyond age 60.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
2049-4173
10
5
2022
Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa
266
268
EN
Emi
Nomura
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Koh
Tadokoro
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryo
Sasaki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumi
Nakata
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumiko
Nakano
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Taijun
Yunoki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mami
Takemoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryuta
Morihara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Masahiro
Ando
Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University
Hiroshi
Takashima
Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University
Toru
Yamashita
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Charcot-Marie-Tooth disease type 2Z (CMT2Z) shows highly variable clinical features. We report the first Japanese CMT2Z patient with a c.754C>T (p.R252W) substitution of the MORC2 gene, complicating severe retinitis pigmentosa. The MORC2 mutants were involved in a decrease in cell survival through induction of apoptosis. Thus, the MORC2 mutation might be involved in the degeneration of photoreceptors and the development of retinitis pigmentosa.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
2049-4173
10
5
2022
A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation
255
258
EN
Emi
Nomura
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yoshio
Omote
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mami
Takemoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Nozomi
Hishikawa
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumiko
Nakano
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Taijun
Yunoki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryuta
Morihara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Tatsuya
Sasaki
Department of Neurological Surgery, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Hiroyuki
Akagawa
Tokyo Women's Medical University Institute for Integrated Medical Sciences
Koji
Abe
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Toru
Yamashita
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama University
Cerebral cavernous malformations (CCMs) are congenital abnormalities of cerebral vessels. Surgical resection is rarely considered for the control of epilepsy in a first seizure patient with vascular malformation. In contrast, lesions that produce repetitive or progressive symptoms should be considered for surgical resection as treatment. Herein, we report a Japanese patient with a CCM2 mutation, c.609G>A (p.K203K) substitution, who showed drug-resistant epilepsy and dramatic improvement after surgical resection.
No potential conflict of interest relevant to this article was reported.
IOS Press
Acta Medica Okayama
1387-2877
86
1
2022
Protective Effect of Rivaroxaban Against Amyloid Pathology and Neuroinflammation Through Inhibiting PAR-1 and PAR-2 in Alzheimerfs Disease Mice
111
123
EN
Zhihong
Bian
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Xia
Liu
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Tian
Feng
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Haibo
Yu
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Xiao
Hu
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Xinran
Hu
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yuting
Bian
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Hongming
Sun
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Koh
Tadokoro
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mami
Takemoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Taijun
Yunoki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumiko
Nakano
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yusuke
Fukui
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryuta
Morihara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Koji
Abe
National Center Hospital, National Center of Neurology and Psychiatry
Toru
Yamashita
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Background: Recent studies have revealed that atrial fibrillation (AF) patients have a high risk of developing cognitive impairment, vascular dementia, and Alzheimerfs disease (AD). Some reports suggest that the application of oral anticoagulant with an appropriate dose may have a preventive effect on AD. However, which oral anticoagulant drug is more appropriate for preventing AD and the underlying mechanism(s) is still unknown. Objective: The aim of the present study was to assess the treatment effect of rivaroxaban administration as well as investigate the roles of PAR-1 and PAR-2 in the AD + CAA mice model. Methods: In the present study, we compared a traditional oral anticoagulant, warfarin, and a direct oral anticoagulant (DOAC), rivaroxaban, via long-term administration to an AD with cerebral amyloid angiopathy (CAA) mice model. Results: Rivaroxaban treatment attenuated neuroinflammation, blood-brain barrier dysfunction, memory deficits, and amyloid-Ŕ deposition through PAR-1/PAR-2 inhibition in the AD + CAA mice model compared with warfarin and no-treatment groups. Conclusion: The present study demonstrates that rivaroxaban can attenuate AD progress and can be a potential choice to prevent AD.
No potential conflict of interest relevant to this article was reported.
Elsevier BV
Acta Medica Okayama
0022-510X
387
15
2018
Familial and sporadic chronic progressive degenerative parietal ataxia
70
74
EN
Ryuta
Morihara
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Toru
Yamashita
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Kentaro
Deguchi
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Tomoko
Kurata
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Emi
Nomura
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Kota
Sato
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Yumiko
Nakano
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Yasuyuki
Ohta
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Nozomi
Hishikawa
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Takeshi
Ikeuchi
Department of Molecular Genetics, Bioresource Science Branch, Center of Bioresource, Brain Research Institute Niigata University
Masataka
Kitaguchi
Department of Neurology, Baba Memorial Hospital
Koji
Abe
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Background & objective: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported.
Methods: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy.
Results: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke. Age at onset of ataxia was 57.6 +/- 6.9 years. All patients showed chronic progressive cerebellar ataxia with severity of ataxic gait > limb ataxia > dysarthria. Patients showed no cognitive dysfunction, muscle weakness, or parkinsonism, and only two patients showed mild sensory disturbances. The seven patients showed lateralized limb ataxia with greater contralateral parietal lobe atrophy by magnetic resonance imaging, and hypoperfusion by single photon emission computed tomography, without any abnormal cerebellar pathology (i.e., crossed cerebellar diaschisis). Pathogenic mutations in the microtubule-associated protein tau gene were not found using two single nucleotide polymorphisms.
Conclusions: This is the first description showing unique clinical features of familial and sporadic chronic progressive degenerative parietal ataxia.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
0360-4012
95
9
2016
Reduction of intracerebral hemorrhage by rivaroxaban after tPA thrombolysis is associated with downregulation of PAR-1 and PAR-2
1818
1828
EN
Ryuta
Morihara
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Toru
Yamashita
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Syoichiro
Kono
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Jingwei
Shang
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Yumiko
Nakano
Departments of Neurology
Kota
Sato
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Nozomi
Hishikawa
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Yasuyuki
Ohta
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Stefan
Heitmeier
Bayer Pharma AG, Drug Discovery - Global Therapeutic Research Groups, Cardiovascular Pharmacology
Elisabeth
Perzborn
Bayer Pharma AG, Drug Discovery - Global Therapeutic Research Groups, Cardiovascular Pharmacology
Koji
Abe
Departments of Neurology, Dentistry and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
This study aimed to assess the risk of intracerebral hemorrhage (ICH) after tissue-type plasminogen activator (tPA) treatment in rivaroxaban compared with warfarin-pretreated male Wistar rat brain after ischemia in relation to activation profiles of protease-activated receptor-1, -2, -3, and -4 (PAR-1, -2, -3, and -4). After pretreatment with warfarin (0.2 mg/kg/day), low-dose rivaroxaban (60 mg/kg/day), high-dose rivaroxaban (120 mg/kg/day), or vehicle for 14 days, transient middle cerebral artery occlusion was induced for 90 min, followed by reperfusion with tPA (10 mg/kg/10 ml). Infarct volume, hemorrhagic volume, immunoglobulin G leakage, and blood parameters were examined. Twenty-four hours after reperfusion, immunohistochemistry for PARs was performed in brain sections. ICH volume was increased in the warfarin-pretreated group compared with the rivaroxaban-treated group. PAR-1, -2, -3, and -4 were widely expressed in the normal brain, and their levels were increased in the ischemic brain, especially in the peri-ischemic lesion. Warfarin pretreatment enhanced the expression of PAR-1 and PAR-2 in the peri-ischemic lesion, whereas rivaroxaban pretreatment did not. The present study shows a lower risk of brain hemorrhage in rivaroxaban-pretreated compared with warfarin-pretreated rats following tPA administration to the ischemic brain. It is suggested that the relative downregulation of PAR-1 and PAR-2 by rivaroxaban compared with warfarin pretreatment might be partly involved in the mechanism of reduced hemorrhagic complications in patients receiving rivaroxaban in clinical trials. © 2016 Wiley Periodicals, Inc.
No potential conflict of interest relevant to this article was reported.
Japanese Society of Internal Medicine
Acta Medica Okayama
0918-2918
56
17
2017
Successful Delayed Aortic Surgery for a Patient with Ischemic Stroke Secondary to Aortic Dissection
2343
2346
EN
Ryuta
Morihara
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Toru
Yamashita
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University
Kentaro
Deguchi
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Keiichiro
Tsunoda
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Yasuhiro
Manabe
Department of Neurology, Okayama National Hospital Medical Center, Japan
Yoshiaki
Takahashi
Department of Neurology, Okayama National Hospital Medical Center, Japan
Taijun
Yunoki
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Kota
Sato
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Yumiko
Nakano
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Syoichiro
Kono
Department of Neurology, Okayama National Hospital Medical Center, Japan
Yasuyuki
Ohta
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Nozomi
Hishikawa
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
Koji
Abe
Departments of Neurology, Dentistry, and Pharmaceutical Sciences, Graduate School of Medicine, Okayama University, Japan
The diagnosis of aortic dissection (AD) is sometimes difficult within the limited time window of recombinant tissue plasminogen activator (tPA) for ischemic stroke (IS). A 60-year-old man developed sudden left hemiparesis due to IS. During tPA infusion, his blood pressure dropped and consciousness declined. After transfer to our hospital, carotid duplex ultrasonography led to a diagnosis of AD. Emergency surgery was postponed because of the risk of hemorrhagic transformation. The patient successfully underwent aortic surgery on day 5 and was discharged with a remarkable improvement in his symptoms. Delayed surgery may avoid hemorrhagic transformation in patients with AD-induced IS who have received tPA.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
2049-4173
10
2022
A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages
98
101
EN
Emi
Nomura
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yuko
Kawahara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yoshio
Omote
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yoshiaki
Takahashi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Namiko
Matsumoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ken
Ikegami
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mami
Takemoto
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Nozomi
Hishikawa
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Yumiko
Nakano
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Taijun
Yunoki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ryuta
Morihara
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Masahiro
Uemura
Department of Neurology, Brain Research Institute, Niigata University
Koji
Abe
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Toru
Yamashita
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene are responsible for pseudoxanthoma elasticum (PXE). PXE is a rare genetic metabolic disease with autosomal recessive inheritance that shows ectopic mineralization in skin, eyes and blood vessels, and causes cerebrovascular disease. There are few reports of intracranial hemorrhages in patients with the ABCC6 mutation. We report the first Japanese case with a heterozygous ABCC6 mutation displaying recurrent ischemic strokes and intracranial hemorrhages. We propose that the ABCC6 mutation may be one cause of neurovascular diseases with a family history.
No potential conflict of interest relevant to this article was reported.
IOP Press
Acta Medica Okayama
1387-2877
73
1
2020
A New Serum Biomarker Set to Detect Mild Cognitive Impairment and Alzheimerfs Disease by Peptidome Technology
217
227
EN
Koji
Abe
Department of Neurology, Okayama University
Jingwei
Shang
Department of Neurology, Okayama University
Xiaowen
Shi
Department of Neurology, Okayama University
Toru
Yamashita
Department of Neurology, Okayama University
Nozomi
Hishikawa
Department of Neurology, Okayama University
Mami
Takemoto
Department of Neurology, Okayama University
Ryuta
Morihara
Department of Neurology, Okayama University
Yumiko
Nakano
Department of Neurology, Okayama University
Yasuyuki
Ohta
Department of Neurology, Okayama University
Kentaro
Deguchi
Department of Neurology, Okayama City Hospital, Okayama
Masaki
Ikeda
Department of Neurology, Gunma University, Graduate School of Medicine
Yoshio
Ikeda
Department of Neurology, Gunma University, Graduate School of Medicine
Koichi
Okamoto
Department of Neurology, Geriatrics Research Institute and Hospital
Mikio
Shoji
Department of Neurology, Geriatrics Research Institute and Hospital
Masamitsu
Takatama
Department of Neurology, Geriatrics Research Institute and Hospital
Motohisa
Kojo
Department of Neurology, Ako Chuo Hospital
Takeshi
Kuroda
Division of Neurology, Department of Medicine, Showa University, School of Medicine
Kenjiro
Ono
Division of Neurology, Department of Medicine, Showa University, School of Medicine
Noriyuki
Kimura
Department of Neurology, Faculty of Medicine, Oita University
Etsuro
Matsubara
Department of Neurology, Faculty of Medicine, Oita University
Yosuke
Osakada
Department of Neurology, Kurashiki Heisei Hospital
Yosuke
Wakutani
Department of Neurology, Kurashiki Heisei Hospital
Yoshiki
Takao
Department of Neurology, Kurashiki Heisei Hospital
Yasuto
Higashi
Department of Neurology, Himeji Central Hospital
Kyoichi
Asada
Membrane Protein and Ligand Analysis Center, Protosera Inc.,
Takehito
Senga
Membrane Protein and Ligand Analysis Center, Protosera Inc.,
Lyang-Ja
Lee
Membrane Protein and Ligand Analysis Center, Protosera Inc.,
Kenji
Tanaka
Membrane Protein and Ligand Analysis Center, Protosera Inc.,
Background:</br>
Because dementia is an emerging problem in the world, biochemical markers of cerebrospinal fluid (CSF) and radio-isotopic analyses are helpful for diagnosing Alzheimerfs disease (AD). Although blood sample is more feasible and plausible than CSF or radiological biomarkers for screening potential AD, measurements of serum amyloid- Ŕ (AŔ), plasma tau, and serum antibodies for AŔ1 - 42 are not yet well established.</br>
Objective:</br>
We aimed to identify a new serum biomarker to detect mild cognitive impairment (MCI) and AD in comparison to cognitively healthy control by a new peptidome technology.</br>
Methods:</br>
With only 1.5Ęl of serum, we examined a new target plate gBLOTCHIP®h plus a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF/MS) to discriminate control (n = 100), MCI (n = 60), and AD (n = 99). In some subjects, cognitive Mini-Mental State Examination (MMSE) were compared to positron emission tomography (PET) with Pittsburgh compound B (PiB) and the serum probability of dementia (SPD). The mother proteins of candidate serum peptides were examined in autopsied AD brains.</br>
Results:</br>
Apart from AŔ or tau, the present study discovered a new diagnostic 4-peptides-set biomarker for discriminating control, MCI, and AD with 87% of sensitivity and 65% of specificity between control and AD (***p < 0.001). MMSE score was well correlated to brain AŔ deposition and to SPD of AD. The mother proteins of the four peptides were upregulated for coagulation, complement, and plasticity (three proteins), and was downregulated for anti-inflammation (one protein) in AD brains.</br>
Conclusion:</br>
The present serum biomarker set provides a new, rapid, non-invasive, highly quantitative and low-cost clinical application for dementia screening, and also suggests an alternative pathomechanism of AD for neuroinflammation and neurovascular unit damage.
No potential conflict of interest relevant to this article was reported.
Wiley
Acta Medica Okayama
2049-4173
7
5
2019
Late presented congenital myasthenic syndrome with novel compound heterozygous CHRNE mutations mimicking seronegative myasthenia gravis
288
290
EN
Yumiko
Nakano
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Keiichiro
Tsunoda
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Toru
Yamashita
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Jun
Mitsui
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kota
Sato
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Mami
Takemoto
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Nozomi
Hishikawa
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Yasuyuki
Ohta
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Tatsushi
Toda
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Shoji
Tsuji
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Koji
Abe
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
We found a late presented congenital myasthenic syndrome (CMS) patient with novel CHRNE gene mutations. Although our patient has shown blepharoptosis since youth, fatigable muscle weakness began at age 71. Genetic analysis revealed novel compound heterozygous CHRNE mutations (c.1032+2T>G, c.1306_1307 delGA). His myasthenic symptoms were well managed by oral anti]cholinesterase drug until he died at 82]year]old. The present case showed mild myasthenic symptoms with very late presentation and slow progression. Late presented CMS is often underdiagnosed; therefore, genetic testing is important to distinguish it from other myasthenic disease.
No potential conflict of interest relevant to this article was reported.