一般ポスター

一般ポスター優秀ポスター賞候補

7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-1 小児交互性片麻痺を来したATP1A3，E815K変異の剖検例 A case of alternating hemiplegia of childhood associated with E815K variant of the ATP1A3 gene 佐野/Sano　輝典/Terunori¹, 中山　雄二¹, 河野　修^2,3, 本橋　裕子², 住友　典子², 竹下　絵里², 齋藤　貴志², 小牧　宏文², 中川　栄二², 水谷　真志¹, 佐々木　征行², 高尾　昌樹¹ 1. 国立精神・神経センター病院　臨床検査部, 2. 国立精神・神経センター病院　脳神経小児科診療部, 3. 帯広厚生病院　小児科 Terunori Sano¹, Yuji Nakayama¹, Osamu Kawano^2,3, Yuko Motohahi², Noriko Sumitomo², Eri Takeshita², Takashi Saito², Hirofumi Komaki², Eiji Nakagawa², Masashi Mizutani¹, Masayuki Sasaki², Masaki Takao¹ 1. Dept. of Laboratory Medicine, National Center of Neurology and Psychiatry, Tokyo, Japan, 2. Dept. of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 3. Dept. of Pediatrics, Obihiro Kosei Hospital Background: Alternating hemiplegia of childhood (AHC) is a childhood disorder with neurological symptoms starting in infancy. ATP1A3 gene variants, including E815K linked to the severe phenotype, cause AHC. Case report: A 41-year-old female had neonatal seizures, recurrent hemiplegic episodes since age one, and hypotonia at 4. AHC was diagnosed at 6. She achieved ambulation with support but later deteriorated. Multiple antiepileptic drugs were prescribed for status epilepticus. At 16, she showed respiratory paralysis and required tube-feeding. At 18, she was bedridden. At 33, the E815K variant was identified. Mechanical ventilation was needed from 39. She died from pneumonia at 41. Brain weight: 762 g. Severe atrophy in cerebrum and cerebellum. Posterior spinal cord columns degenerated. Loss of optic nerve fibers. Marked hippocampal atrophy. Severe loss of Purkinje and granular cells with molecular layer shrinkage and dentate nucleus degeneration. Thalamus, globus pallidus, and subthalamic nucleus showed moderate neuronal loss and gliosis. Discussion: This case showed extensive lesions, including the spinal cord, brainstem, cerebellum, basal ganglia, and optic nerves, which correspond to the variable clinical presentations of AHC. However, differentiating specific pathological changes indicating AHC from those caused by status epilepticus or long-term medication is challenging.		7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-2 Clinicopathologic features of two patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation 林　秀樹^1,2, 齋藤　理恵¹, 田中　英智¹, 原　範和³, 小出　伸^2,4, 米持　洋介⁴, 小澤　哲夫⁵, 穂苅　万李子^2,6, 豊島　靖子^1,7, 宮下　哲典³, 小野寺　理², 池内　健³, 中島　孝⁴, 柿田　明美¹ 1. 新潟大学脳研究所　病理学分野, 2. 新潟大学脳研究所　脳神経内科学分野, 3. 新潟大学脳研究所　遺伝子機能解析学分野, 4. 独立行政法人国立病院機構　新潟病院　脳神経内科, 5. 独立行政法人国立病院機構新潟病院　内科, 6. 新潟市民病院　脳神経内科, 7. 医療法人潤生会脳神経センター阿賀野病院　脳神経内科 Hideki Hayashi^1,2, Rie Saito¹, Hidetomo Tanaka¹, Norikazu Hara³, Shin Koide^2,4, Yosuke Yonemochi⁴, Tetsuo Ozawa⁵, Mariko Hokari^2,6, Yasuko Toyoshima^1,7, Akinori Miyashita³, Osamu Onodera², Takeshi Ikeuchi³, Takashi Nakajima⁴, Akiyoshi Kakita¹ 1. Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan, 2. Department of Neurology, Brain Research Institute, Niigata University, 3. Department of Molecular Genetics, Brain Research Institute, Niigata University, 4. Department of Neurology, NHO Niigata National Hospital, 5. Department of Internal Medicine, NHO Niigata National Hospital, 6. Department of Neurology, Niigata City General Hospital, 7. Department of Neurology, Brain Disease Center, Agano Hospital Objective: To clarify the clinicopathologic characteristics of two Japanese patients with Charcot-Marie-Tooth disease (CMT) carrying a heterozygous mutation, p.R364W, in the MFN2 gene. Methods: The clinical features were recorded and autopsied tissue was examined histologically. Results: The two unrelated males exhibited similar clinical features, having both developed gait disturbance in early childhood, followed by gradual progression of sensory disturbance in the upper and lower extremities, and died in their 70s. Neither showed any visual disturbance. Histopathologically, however, both patients showed similar features of visual tract degeneration, including severe atrophy of the optic nerves with axon reduction, and neuronal loss with gliosis in the striate cortex. The motor and dorsal column pathways were also affected in both patients. Degeneration of the spinal anterior horns and lateral columns was evident. In the dorsal column pathway, there was marked myelin pallor in the posterior funiculus and neuronal loss in the dorsal root ganglia. The peripheral nerves were severely affected and myelinated fibers were depleted. Ultrastructurally, clusters of fragmented mitochondria were detected in the sural nerves. Conclusion: These patients with MFN2 mutation were characterized pathologically by degeneration of the visual tract, motor system, and dorsal column pathway.

7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-3 Respiratory failure caused by brainstem demyelinating lesions in an elderly patient with a suspected autoimmune disorder 本郷　祥子^1,2, 清水　宏¹, 佐治　越爾², 中島　章博², 岡本　浩一郎³, 河内　泉^2,4, 小野寺　理², 柿田　明美¹ 1. 新潟大学脳研究所　病理学分野, 2. 新潟大学脳研究所　脳神経内科, 3. 新潟大学脳研究所　トランスレーショナル研究分野, 4. 新潟大学医学部医学科　医学教育センター Shoko Hongo^1,2, Hiroshi Shimizu¹, Etsuji Saji², Akihiro Nakajima², Kouichirou Okamoto³, Izumi Kawachi^2,4, Osamu Onodera², Akiyoshi Kakita¹ 1. Dept. of Pathol., Brain Res. Inst., Niigata Univ., 2. Dept. of Neurol., Brain Res. Inst., Niigata Univ., 3. Dept of Transl. Res., Brain Res. Inst., Niigata Univ., 4. Med. Educ. Ctr., Niigata Univ. Sch. Med. 【Case history】A man in his eighties presented with dysarthria, dysphasia, and right hemiplegia approximately one year after an episode of cognitive decline suggestive of acute disseminating encephalomyelitis. Serial brain MRI studies revealed three lesions in the left medulla oblongata (MO) and left pontine base that appeared sequentially within a month. No anti-MOG or AQP4 antibodies were detected in the serum. He died of respiratory failure despite improvement of the dysarthria after methylprednisolone pulse therapy. 【Pathological findings】Four fresh, well-defined lesions in the brainstem demonstrated predominant myelin loss, preservation of axons, and infiltration of lymphocytes, reminiscent of the histological features of multiple sclerosis (MS). A lesion in the dorsal MO, involving the bilateral solitary nuclei and medullary reticular formation, was not radiologically detectable and may therefore have occurred at a later disease stage, eventually causing respiratory failure. 【Discussion】Despite the histological similarities of the lesions, the high age at onset and early cognitive decline in this patient did not support a diagnosis of MS. The occurrence of demyelinating lesions in close proximity within a short time frame was unusual. The autoantibodies responsible for the observed inflammatory demyelination are currently being investigated.		7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-4 Pathological analysis of tau and p-TDP-43 deposition in the temporal lobe in Alzheimer's disease. 守吉　秀行^1,2, 赤木　明生², 陸　雄一^1,2, 曽根　淳², 宮原　弘明², 勝野　雅央¹, 吉田　眞理², 岩崎　靖² 1. 名古屋大学　神経内科学, 2. 愛知医科大学　加齢医科学研究所 Hideyuki Moriyoshi^1,2, Akio Akagi², Yuichi Riku^1,2, June Sone², Miyahara Hiroaki², Masahisa Katsuno¹, Mari Yoshida², Yasushi Iwasaki² 1. Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2. Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan Objective: To clarify tau and p-TDP-43 deposition of temporal lobe of Alzheimer's disease (AD).Method: The subjects are 40 pathologically confirmed patients with AD. Twenty control cases are prepared. We investigated frequency of AT-8 and p-TDP-43 immunopositive structure of temporal lobe. Result: Mean age of AD cases was 82.6 (±9.0) years, and control case were 73.6 (±10.1) years. All AD cases have p-TDP-43 immunopositive structure on the transentorhinal cortex, entorhinal cortex, subiculum and amygdala. About 60 percent of AD case have p-TDP-43 immunopoitive structure on the middle temporal gyrus. The frequency of p-TDP-43 immunopositive structure was statistically predominant than control cases in any region. In the control cases, the p-TDP-43 immunopositive structure appeared most frequently in the transentorhinal cortex. Tau immunopositive structure was present in all regions where p-TDP-43 immunopositive structure was present.Conclusion: In AD cases, p-TDP-43 immunopositive structure in medial temporal lobe appeared more frequently than previous reports. This result questioned the independency of AD pathology and limbic-predominant age-related TDP-43 encephalopathy (LATE). In control cases, p-TDP-43 appeared transentorhinal cortex at high frequency and this is not compatible to previously suggested pathological stage of LATE.

7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-5 Multiple system atrophy with marked laterality in the olivopontocerebellar system: An autopsy case 小澤　美里^1,2, 齋藤　理恵¹, 今野　卓哉³, 小野寺　理³, 小出　玲爾², 藤本　茂², 柿田　明美¹ 1. 新潟大学脳研究所　病理学分野, 2. 自治医科大学内科学講座　神経内科学部門, 3. 新潟大学脳研究所　脳神経内科 Misato Ozawa^1,2, Rie Saito¹, Takuya Konno³, Osamu Onodera³, Reiji Koide², Shigeru Fujimoto², Akiyoshi Kakita¹ 1. Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan 【Introduction】In MSA, approximately 30-50% of the patients are known to clinically show laterality of symptoms, but the histopathology at autopsy rarely exhibits laterality. We have experienced such a case and report its clinicopathological features. 【Patient】A 77-year-old man developed gait instability, pollakiuria, and constipation, followed by left-predominant limb ataxia, parkinsonism, and autonomic failure, leading to a diagnosis of MSA-C at the age of 81. Brain MRI showed left-sided predominant atrophy in the cerebellum and middle cerebellar peduncle. He succumbed to sudden death at the age of 83. 【Histopathology】Pathologically, degeneration was more prominent in the OPC system than in the SN system, with severe neuronal loss in the cerebellum and moderate neuronal loss in the pontine nucleus (PonN) and inferior olivary nucleus (IO). Interestingly, the cerebellar cortical degeneration was more prominent on the left side, while degeneration and α-synuclein accumulation in the PonN and IO was pronounced oppositely on the right side. 【Conclusion】The laterality of degeneration and α-synuclein accumulation may be associated with protein propagation and consequent neuronal loss.		7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-6 純粋自律神経不全症の神経病理学的検討 Neuropathological study of pure autonomic failure 原　愛徒^1,3, 繁雄　村山^1,2, 荒川　晶^1,3, 織田　麻琴¹, 松原　知康¹, 戸田　達史³, 齊藤　祐子¹ 1. 東京都健康長寿医療センター高齢者ブレインバンク, 2. 大阪大学大学院連合小児発達学研究科附属子どものこころの分子統御機構研究センターブレインバンク・バイオリソース部門, 3. 東京大学大学院医学系研究科神経内科学 Manato Hara^1,3, Murayama Shigeo^1,2, Akira Arakawa^1,3, Makoto Orita¹, Tomoyasu Matsubara¹, Tatsushi Toda³, Yuko Saito¹ 1. The Brain Bank for Aging Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan, 2. United Graduate School of Child Developmment & Department of Neurology, Graduate School of Medicine, Osaka University, 3. Department of Neurology Graduate School of Medicine, The University of Tokyo Objective: Pure autonomic failure- α synuclein (PAF) is a neurodegenerative disease first involving the peripheral autonomic nervous system (PNS) with Lewy- body related α synucleinopathy (LBAS). The core clinical symptoms consist of orthostatic hypotension (OH) and sweating, urinary and erectile disorders. We present two cases of PAF. Method: Case 1, a man died at 88 years old. He in sixties presented dizziness and syncope, constipation, sweating disorder, and decreased sense of smell. Thereafter, mild cognitive impairment (MCI) was detected, and he died of gastrointestinal hemorrhage. Case 2, a man died at 85 years old. He presented constipation and blood pressure perturbations at 77 years old, after that, OH, incontinence and MCI were presented. He died of urinary tract infection. Results: The two cases have remarkable depigmentation of locus ceruleus, although that of substantia nigra (SN) is relatively mild. LBAS is noted in the PNS and corresponded to diffuse type pathology of dementia with Lewy Bodies consensus guideline including hippocampal CA2. Conclusions: Both cases correspond to the latter case in brain-first versus body-first progression hypothesis, although the relatively sparing SN is characteristic. The hippocampal CA2 with relatively abundant LBAS in both cases supports the need to pay attention to cognitive function in the late stages of PAF.

7月6日（木）　13:20-13:55　ポスター会場② 1P⑧-7 小脳に特徴的病変を認めた，経過約30年の緩徐進行性小脳失調を呈したSCAR8 (SYNE1 ataxia) の1剖検例 An autopsy case of SCAR8 with characteristic lesions in the cerebellum which showed slowly progressive cerebellar ataxia 光武　明彦^1,2, 荒川　晶^1,3, 河合　三津保¹, 代田　悠一郎^1,4, 寺田　さとみ⁵, 後藤　順², 安永　瑛一⁶, 池村　雅子⁶, 前田　明子¹, 作石　かおり^1,7, 石浦　浩之^1,8, 松川　敬志¹, 三井　純⁹, 辻　省次^9,10, 戸田　達史¹, 村山　繁雄^3,11, 齊藤　祐子³ 1. 東京大学　脳神経内科, 2. 国際医療福祉大学三田病院　脳神経内科, 3. 東京都健康長寿医療センター　神経病理, 4. 東京大学　検査部, 5. 杏林大学　病態生理学, 6. 東京大学　病理部, 7. 帝京大学ちば総合医療センター　脳神経内科, 8. 岡山大学　脳神経内科, 9. 東京大学　分子神経学, 10. 国際医療福祉大学　ゲノム医学研究所, 11. 大阪大学大学院　連合小児発達学研究科 Akihiko Mitsutake^1,2, Akira Arakawa^1,3, Mizuho Kawai¹, Yuichiro Shirota^1,4, Satomi Terada⁵, Jun Goto², Yoichi Yasunaga⁶, Masako Ikemura⁶, Meiko Maeda¹, Kaori Sakuishi^1,7, Hiroyuki Ishiura^1,8, Takashi Matsukawa¹, Jun Mitsui⁹, Shoji Tsuji^9,10, Tatsushi Toda¹, Shigeo Murayama^3,11, Yuko Saito³ 1. Dept. of Neurology, Univ. of Tokyo, Tokyo, Japan, 2. Dept. of Neurology, IUHW Mita Hospital, Tokyo, Japan, 3. Dept. of Neuropathology, TMIG, Tokyo, Japan, 4. Dept. of Clinical Laboratory, Univ. of Tokyo, Tokyo, Japan, 5. Dept. of Medical Physiology, Univ. of Tokyo, Tokyo, Japan, 6. Dept. of Pathology, Univ. of Tokyo, Tokyo, Japan, 7. Dept. of Neurology, Teikyo Univ. Chiba Medical Center, Chiba, Japan, 8. Dept. of Neurology, Okayama Univ., Okayama, Japan, 9. Dept. of Molecular Neurology, Univ. of Tokyo, Tokyo, Japan, 10. Institute of Medical Genomics, IUHW, Chiba, Japan, 11. United Graduate School of Child Development, Osaka Univ., Osaka, Japan [Objective] To describe clinical, genetic, and neuropathological characteristics of a patient with SCAR8. [Methods] Whole-exome sequencing (WES) identified a patient with SCAR8, and autopsy was performed. [Results] 1. Clinical course: At age 38, gait disturbance and dysarthria began. At age 45, cortical cerebellar atrophy was diagnosed. Neurological examination showed dysarthria, limb and truncal ataxia, and hyperreflexia. Symptoms gradually worsened and cane use began at age 53. He died at age 69 due to cerebral infarction. 2. Genetic analysis: WES showed two heterozygous nonsense variants (p.Q1654* and p.Q2423*) in SYNE1, confirmed as compound heterozygous by ddPCR. 3. Neuropathology: Brain weight was 1190g. Macroscopically, cerebellar atrophy was seen. Microscopic analysis revealed marked reduction in Purkinje cells in the anterior lobe of vermis, with thinning of the molecular layer and significant loss of granule cells. Neurons in dentate nucleus were preserved, but gliosis was observed. Mild loss of neurons and gliosis were noted in inferior olivary nucleus. In addition, diffuse and widespread accumulation of climbing fibers, distinct from the findings of empty baskets, was present. [Discussion] This is the second autopsy case of SCAR8. It is uncertain whether the accumulation of climbing fibers is related to SCAR8. Accumulation of autopsy findings of SCAR8 is needed.