Faculty Profiles - TAKASHIMA Hiroshi

Papers - TAKASHIMA Hiroshi

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M.D. Ph.D. Maruta Kyoko, M.D. Ph.D. Ando Masahiro, M.D. Ph.D. Otomo Takanobu, M.D. Ph.D. Takashima Hiroshi . A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene . Rinsho Shinkeigaku60 ( 8 ) 543 - 548 2020Reviewed

Language：Japanese Publisher：Societas Neurologica Japonica

We describe an additional patient with spastic paraplegia 48 (SPG48). A 52-year-old woman with gradually increasing gait disturbance was admitted to our hospital. When she was 47 years old, acquaintances noted a shuffling gait. Gait worsening was evident at 48 years. Spastic gait was apparent at 50, and she required a walking stick at 54. Her elder brother had similar gait disturbance. No consanguinity was known. Neurologic examination at 52 disclosed spasticity and moderate weakness in the lower limbs. Spasticity and brisk reflexes in all limbs. Laboratory studies including HTLV-1 titer detected no abnormalities. MRI demonstrated mild corpus callosum narrowing and prominent anterior periventricular hyperintensities in fluid attenuation inversion recovery images. In limb muscles, electromyography (EMG) showed a chronic neurogenic pattern including reduced interference. Gene analysis identified compound homozygosity in exon 7 of adaptor-related protein complex 5 subunit zeta 1 (AP5Z1), including a novel frameshift mutation, c.1662_1672del;p.Glu554Hfs*15 in the patient, and a heterozygous missense mutation in asymptomatic family members, including her mother, two siblings, and a daughter. The frameshift mutation is considered a pathogenic variant according to American College of Medical Genetics and Genomics standards and guidelines. Based on clinical features, imaging findings and genetic abnormalities, we diagnosed this patient with SPG48. Mutations in AP5Z1, which encodes the ζ subunit of AP-5, underlie SPG48. The AP-5 adaptor protein complex, which is mutated in SPG48, binds to both spastizin and spatacsin. While hereditary spastic paraplegias generally are clinically and genetically heterogenous, SPG48, SPG11, and SPG15 are clinically similar.

DOI： 10.5692/clinicalneurol.60.cn-001419

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Furuzono Mai, Takashima Hiroshi, Matsumoto Riku, Mayumi Hanako, Tashiro Yuichi, Arata Hitoshi, Yamano Yoshihisa, Tanaka Masakazu, Kubota Ryuji, Matsuura Eiji . The initial symptom as a clinical parameter for rapid progression of HAM/TSP . NEUROINFECTION25 ( 1 ) 146 2020

Language：Japanese Publisher：Japanese Society for Neuroinfectious Diseases

Background : While Human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a slowly progressive neurological disease, the progression of the disease varies from person to person. While some blood or cerebrospinal fluid biomarkers for rapid progression of HAM/TSP have been reported, no clinical parameter associated with rapid progression of HAM/TSP has been identified except for older age. Purpose : We tried to find the initial symptom associated with rapid progression of the disease using registry data on patients ( n=527 ) enrolled in the Japanese HAM/TSP patient registry "HAM-net." We determined the periods from the onset of HAM/TSP to the age of wheelchair use in daily life of all the patients and compared the periods by their initial symptom. Result : Urinary disturbance as an initial symptom was significantly associated with slowly progression of HAM/TSP. Sensory disturbance as an initial symptom was significantly associated with rapid progression. Conclusion : The result showed that Initial symptoms could suggest the disease course of the patients with HAM/TSP.

DOI： 10.34397/jsnd.25.1_146

M.D. Ph.D. Kitao Ruriko, M.D. Ph.D. Honma Yutaka, M.D. Ph.D. Hashiguchi Akihiro, M.D. Ph.D. Mizoguchi Kouichi, M.D. Ph.D. Takashima Hiroshi, M.D. Ph.D. Komori Tetsuo . A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene . Rinsho Shinkeigaku60 ( 7 ) 466 - 472 2020Reviewed

Language：Japanese Publisher：Societas Neurologica Japonica

The patient was a 29-year-old male. He took his first steps at two-and-a-half years old, but his physical strength deteriorated and he became non-ambulatory at 12 years old. He had respiratory failure at the age of 20, and finally underwent tracheostomy with invasive positive-pressure ventilation (TPPV). He showed distal dominant muscle weakness and atrophy, including the face. Spinal scoliosis was recognized. He had peripheral predominance of sensory disorders. Nerve conduction studies showed a decrease of compound muscle action potential and a reduction of motor nerve conduction velocity. Sensory nerve action potential was not evoked. In genetic analysis, c.23 C> T (p. T8M) heterozygous mutation was found in the senataxin gene (SETX). Although SETX is a causative gene of familial amyotrophic lateral sclerosis type 4 (ALS4), this case suggests that SETX mutation can also cause motor and sensory polyneuropathy.

DOI： 10.5692/clinicalneurol.60.cn-001415

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Kikuchi Akira, Okamoto Yuji, Hashiguchi Hiroshi, Yoshishige Koichi, Taniguchi Takaki, Deguchi Takahisa, Takashima Hiroshi, Nishio Yoshihiko . A Case of Mitochondrial Diabetes Mellitus Diagnosed by Development of Cognitive Decline . Journal of the Japan Diabetes Society63 ( 5 ) 344 - 349 2020Reviewed

Language：Japanese Publisher：THE JAPAN DIABETES SOCIETY

The patient was a 64-year-old woman with a family history of diabetes mellitus who was diagnosed with focal glomerulosclerosis and diabetes mellitus at 40 and 53 years of age, respectively. Five years previously, the patient had switched from oral hypoglycemic drugs to intensive insulin therapy due to poor glycemic control. Three years later, the patient was diagnosed with progressive memory loss that was thought to be the reason for the deterioration in glycemic control. A neurological examination revealed impairment of the higher brain functions and coordination of arm movements. Bilateral white matter lesions with cerebral, brain stem, and cerebellar atrophy were observed on brain MRI. In addition, a left biceps muscle biopsy revealed myopathy accompanied by ragged red fiber, a characteristic finding of mitochondrial diabetes. The re-examination of the renal biopsy specimen that was obtained at 57 years of age was also suggestive of a mitochondrial-related lesion. Surprisingly, the patient's older sister was also diagnosed with mitochondrial diabetes. There are no previous reports of cases in which mitochondrial diabetes was discovered due to poor control as a result of associated cognitive decline. We describe the present case with consideration of the relevant literature.

DOI： 10.11213/tonyobyo.63.344

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M.D. Ph.D. Nakane Shunya, M.D. Ph.D. Kimura Kazumi, M.D. Ph.D. Suzuki Masahiko, M.D. Ph.D. Takashima Hiroshi, M.D. Ph.D. Terayama Yasuo, M.D. Ph.D. Nishiyama Kazutoshi, M.D. Ph.D. Furuya Hirokazu, M.D. Ph.D. Matsubara Etsuro, M.D. Ph.D. Muramatsu Shin-Ichi, M.D. Ph.D. Yamamura Osamu, M.D. Ph.D. Takeda Atsushi, M.D. Ph.D. Mizoguchi Kouichi, M.D. Ph.D. Ito Hidefumi, Committee for Measures Against Disaster Japanese Society of Neurology, M.D. Ph.D. Abe Koji, M.D. Ph.D. Atsuta Naoki, M.D. Ph.D. Iguchi Yasuyuki, M.D. Ph.D. Ikeda Yoshio, M.D. Ph.D. Kaji Ryuji, M.D. Ph.D. Kamei Satoshi, M.D. Ph.D. Kitagawa Kazuo . Role of the liaison officer in disaster countermeasures implemented by the Japanese Society of Neurology: Hope for the best and prepare for the worst . Rinsho Shinkeigaku60 ( 10 ) 643 - 652 2020Reviewed

Language：Japanese Publisher：Societas Neurologica Japonica

Disaster countermeasures have been implemented by the Japanese Society of Neurology based on the experience of support to the areas affected by the Great East Japan Earthquake on March 11, 2011. The countermeasures activity began at the end of 2011. We, the Committee for Measures Against Disaster, officially started work in 2014. We developed a support network to urgently deal with patients with intractable neurological disease at the time of disaster and strengthen disaster measures, including effective disaster countermeasure training. During the 2016 Kumamoto earthquake, we realized the need to prepare for natural disasters, leading to a state of emergency, at normal times. A list of vulnerable people should be prepared and the individual support plan for disaster should be confirmed during normal times. Furthermore, during disaster, livelihood support is required for patients with intractable neurological disease living in evacuation centers in affected areas. Therefore, we compiled and published the book, titled "The manual of disaster countermeasures," in 2017. The Committee for Measures Against Disaster in the Japanese Society of Neurology has appointed a liaison officer for patients with intractable neurological disease in each prefecture. The liaison's role of is gathering and disseminating information on the disaster-hit areas, arranging medical support, and coordinating health activities, when natural disasters occur. It is hoped that the liaison officer will play an active role both at normal times and during disaster, even unforeseen ones. Although we hope for the best, we aim to be prepared for the worst.

DOI： 10.5692/clinicalneurol.cn-001493

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Aoki Reika, Komagamine Tomoko, Kokubun Norito, Hashiguchi Akihiro, Takashima Hiroshi, Hirata Koichi . A patient with X-linked Charcot–Marie–Tooth disease type 1 who responded to intravenous immunoglobulin therapy . Japanese Journal of Clinical Neurophysiology48 ( 1 ) 8 - 14 2020Reviewed

Language：Japanese Publisher：Japanese Society of Clinical Neurophysiology

Previous reports showed that some patients with X-linked Charcot–Marie–Tooth disease type 1 (CMTX1) showed favorable response after intravenous immunoglobulin therapy (IVIg). Immunological vulnerability of the myelin is hypothesized to underlie mechanism of such groups. Here, we report a patient with CMTX1 who responded to IVIg. A 51-year-old male became to be easy to stumble from about 46 years old, and developed subacute progression of gait disturbance three months before admission. Examination revealed hammer toes, muscle weakness in the distal four extremities, diminished tendon reflexes, and sensory ataxia. Nerve conduction study showed demyelinating features, fulfilled the criteria for CIDP. IVIg showed favorable effect. However, his symptom gradually worsened several months after IVIg. His mother also had peripheral neuropathy predominantly in the lower limbs. CMT was suspected and genetic test revealed P70S mutation in GJB1. The diagnosis of CMTX1 was made. His symptom improved again after second IVIg, and then, repeated IVIg maintained his symptoms.

DOI： 10.11422/jscn.48.8

髙嶋博, 山村隆 . 自己免疫性脳炎の診療の進歩　update　司会の言葉 . 神経治療学37 ( 4 ) 634 - 634 2020

Sakiyama Yusuke, Takashima Hiroshi . Review/Advances in Neurological Therapeutics (2019). Spinocerebellar degeneration . Neurological Therapeutics37 ( 5 ) 732 - 735 2020

Language：Japanese Publisher：Japanese Society of Neurological Therapeutics

We reviewed the recent advances in therapeutics of spinocerebellar degeneration (SCD) that were published in 2019. Ion channel modulation may contribute to recover for Purkinje neuron dysfunction and motor impairment in a variety of cerebellar ataxias. The role of RNA–binding proteins as RNA chaperones may lead to the development of new treatments for SCA31. Aminopyridines and acetyl–DL–leucine will provide new therapeutic strategies of cerebellar disorders. We expect that these treatments will contribute to patients with cerebellar motor dysfunction and ataxia.

DOI： 10.15082/jsnt.37.5_732

Yamashita S, Kimura E, Zhang Z, Tawara N, Hara K, Yoshimura A, Takashima H, Ando Y . Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation. . Muscle & nerve60 ( 6 ) 739 - 744 2019.12Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is characterized by adult onset, a slowly progressive course and autosomal dominant inheritance. It remains unclear whether myopathic changes occur histopathologically. METHODS: We encountered 2 patients in a family with a heterozygous p.P285L mutation in TRK-fused gene (TFG), which is known to cause HMSN-P. The affected individuals developed proximal-dominant muscle weakness in their 40s, which slowly progressed to a motor neuron disease-like phenotype. RESULTS: Muscle biopsy showed myopathic pathology including fiber size variability, increased internal nuclei, fiber splitting, and core-like structures, associated with neurogenic changes: large groups of atrophic fibers and fiber type-grouping. Immunohistochemistry revealed sarcoplasmic aggregates of TFG, TDP-43, and p62 without congophilic material. CONCLUSIONS: The present study demonstrates myopathic changes in HMSN-P. Although the mechanisms underlying the skeletal muscle involvement remain to be elucidated, immunohistochemistry suggests that abnormal protein aggregation may be involved in the myopathic pathology.

DOI： 10.1002/mus.26683

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Shojima Yuri, Nishioka Kenya, Watanabe Masao, Jo Takayuki, Tanaka Keiko, Takashima Hiroshi, Noda Kazuyuki, Okuma Yasuyuki, Urabe Takao, Yokoyama Kazumasa, Hattori Nobutaka . 確定した自己免疫性辺縁系脳炎の臨床特性　30症例のケースシリーズ(Clinical Characterization of Definite Autoimmune Limbic Encephalitis: A 30-case Series) . Internal Medicine58 ( 23 ) 3369 - 3378 2019.12確定した自己免疫性辺縁系脳炎の臨床特性　30症例のケースシリーズ(Clinical Characterization of Definite Autoimmune Limbic Encephalitis: A 30-case Series)

Publisher：(一社)日本内科学会

確定した自己免疫性辺縁系脳炎(LE)患者の臨床特性を後向きに評価した。日本3施設でLEと診断された患者16759例の医療記録を評価し、臨床的に確定した自己免疫性LE患者30例を特定した(有病率0.2%)。8例が抗N-メチル-D-アスパラギン酸受容体(NMDAR)抗体陽性、2例が抗電位依存性カリウムチャネル(VGKC)複合抗体陽性、2例が腫瘍随伴症候群関連抗体陽性で、18例は抗体陰性であった。NMDAR陽性群では典型的症状が認められた。脳MRI所見では、退院後1年間の追跡時に有意な内側側頭葉の萎縮が認められた。合併症としての認知機能障害の有病率は64%(9/14例)であった。一次免疫療法の成績は良好で、修正Rankin尺度スコアは4.0±1.1から1.1±1.1に著明に改善した。NMDAR陽性群、VGKC陽性群、抗体陰性群のいずれにおいても治療成績は良好であったことから、早期臨床診断と早期治療開始の重要性が示唆された。

Ukon Shinichiro, Watanabe Shohei, Tatsumi Yoshiki, Hashiguchi Akihiro, Takashima Hiroshi, Yoshikawa Hiroo . Mitofusin 2 S245Rを発現するCharcort-Marie-Tooth病2A型モデルのトランスジェニックマウスにおける、視神経でのミトコンドリア形態異常(Mitochondria! Malformation in the Optic Nerve of a Transgenic Mouse Model of Charcot-Marie-Tooth Type 2A Expressing Mitofusin 2 S245R) . 兵庫医科大学医学会雑誌44 ( 1 ) 59 - 67 2019.9Mitofusin 2 S245Rを発現するCharcort-Marie-Tooth病2A型モデルのトランスジェニックマウスにおける、視神経でのミトコンドリア形態異常(Mitochondria! Malformation in the Optic Nerve of a Transgenic Mouse Model of Charcot-Marie-Tooth Type 2A Expressing Mitofusin 2 S245R)

Publisher：兵庫医科大学医学会

異常な視覚誘発性電位を呈したCharcort-Marie-Tooth病2A型(CMT2A)の日本人家系にヘテロ接合MFN2遺伝子変異(c.733A>C: p.Ser245Arg)を検出した。そこで、ニューロンにmitofusin 2(MFN2) S245Rを特異的に発現するトランスジェニック(TG)マウスを作成し、その生態病理について検討した。その結果、このTGマウスは対照マウスに比べて坐骨神経内のg-ratioが有意に大きかった。次にTGマウスの視神経を検討すると、横断面と縦断面のいずれでもミトコンドリアのサイズが対照マウスに比べて有意に小さく、これはミトコンドリアの融合障害に起因すると推測された。以上より、変異MFN2はミトコンドリア融合に影響を及ぼし、視神経症を引き起こすと考えられた。

Takashima Hiroshi . Progress of Medical Treatment of Neuropathy . Nihon Naika Gakkai Zasshi108 ( 8 ) 1515 - 1516 2019.8

Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G . Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. . Nature genetics51 ( 8 ) 1215 - 1221 2019.8Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease that is characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The wide range of clinical manifestations in NIID makes ante-mortem diagnosis difficult1-8, but skin biopsy enables its ante-mortem diagnosis9-12. The average onset age is 59.7 years among approximately 140 NIID cases consisting of mostly sporadic and several familial cases. By linkage mapping of a large NIID family with several affected members (Family 1), we identified a 58.1 Mb linked region at 1p22.1-q21.3 with a maximum logarithm of the odds score of 4.21. By long-read sequencing, we identified a GGC repeat expansion in the 5' region of NOTCH2NLC (Notch 2 N-terminal like C) in all affected family members. Furthermore, we found similar expansions in 8 unrelated families with NIID and 40 sporadic NIID cases. We observed abnormal anti-sense transcripts in fibroblasts specifically from patients but not unaffected individuals. This work shows that repeat expansion in human-specific NOTCH2NLC, a gene that evolved by segmental duplication, causes a human disease.

DOI： 10.1038/s41588-019-0459-y

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Tomari S. . Effect of direct oral anticoagulant for acute major cerebral artery occlusion in cardioembolic stroke/transient ischemic attack patients with non-valvular atrial fibrillation . Journal of the Neurological Sciences402 162 - 166 2019.7Reviewed International journal

Togawa Jumpei, Ohi Takekazu, Yuan Jun-Hui, Takashima Hiroshi, Furuya Hirokazu, Takechi Shinji, Fujitake Junko, Hayashi Saki, Ishiura Hiroyuki, Naruse Hiroya, Mitsui Jun, Tsuji Shoji . 緩徐進行性の下肢優勢晩期発症筋力低下および萎縮を伴う非定型家族性筋萎縮性側索硬化症(Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy) . Internal Medicine58 ( 13 ) 1851 - 1858 2019.7緩徐進行性の下肢優勢晩期発症筋力低下および萎縮を伴う非定型家族性筋萎縮性側索硬化症(Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy)

Publisher：(一社)日本内科学会

家族性筋萎縮性側索硬化症(fALS)の同胞6例を対象に、臨床的インタビューと臨床検査を行ってfALSの非定型表現型について報告し、末梢血標本の遺伝子解析を行った。罹患同胞は5例(男性3例、女性2例)、健康同胞は1例(女性)であった。fALSの臨床特性は、緩徐進行性(平均罹病期間19.6±3.9年)、下肢優勢晩期発症筋力低下(筋力低下の平均発症時年齢52.8±2.6歳)であった。遺伝子解析により、すべての罹患同胞においてPLEC遺伝子のヘテロ接合型ミスセンス変異(OMIM 601282,c.2668C>T,p.R890C)、ST3GAL6遺伝子のヘテロ接合型ミスセンス変異(OMIM 607156,c.421G>C,p.V141L)が検出された。臨床経過が比較的良好な新規の非定型fALS家族について報告し、この表現型に関連する二つの候補遺伝子変異を特定した。

Kawarai T, Yamazaki H, Miyamoto R, Takamatsu N, Mori A, Osaki Y, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H, Kaji R . PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability. . Neuromuscular disorders : NMD29 ( 6 ) 422 - 426 2019.6Reviewed International journal

Language：Japanese Publishing type：Research paper (scientific journal)

PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions.

DOI： 10.1016/j.nmd.2019.03.010

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Jialin Li, Kojiro Suda, Ibuki Ueoka, Ryo Tanaka, Hideki Yoshida, Yasushi Okada, Yuji Okamoto, Yu Hiramatsu, Hiroshi Takashima, Masamitsu Yamaguchi . Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability. . Experimental cell research379 ( 2 ) 150 - 158 2019.6Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

Mutations in the HADHB gene induce dysfunctions in the beta-oxidation of fatty acids and result in a MTP deficiency, which is characterized by clinical heterogeneity, such as cardiomyopathy and recurrent Leigh-like encephalopathy. In contrast, milder forms of HADHB mutations cause the later onset of progressive axonal peripheral neuropathy (approximately 50-80%) and myopathy with or without episodic myoglobinuria. The mechanisms linking neuronal defects in these diseases to the loss of HADHB function currently remain unclear. Drosophila has the CG4581 (dHADHB) gene as a single human HADHB homologue. We herein established pan-neuron-specific dHADHB knockdown flies and examined their phenotypes. The knockdown of dHADHB shortened the lifespan of flies, reduced locomotor ability and also limited learning abilities. These phenotypes were accompanied by an abnormal synapse morphology at neuromuscular junctions (NMJ) and reduction in both ATP and ROS levels in central nervous system (CNS). The Drosophila NMJ synapses are glutamatergic that is similar to those in the vertebrate CNS. The present results reveal a critical role for dHADHB in the morphogenesis and function of glutamatergic neurons including peripheral neurons. The dHADHB knockdown flies established herein provide a useful model for investigating the pathological mechanisms underlying neuropathies caused by a HADHB deficiency.

DOI： 10.1016/j.yexcr.2019.03.040

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Miyaue N. . Phenotypic diversity of hereditary sensory and autonomic neuropathy type IE: A case series and review of the literature . Neurology Asia24 ( 1 ) 15 - 20 2019.3Reviewed International journal

Takuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, Masashi Aoki, Takehiko Inui, Yukimune Okubo, Ryo Sato, Noriko Togashi, Hiroshi Takashima, Hiroyuki Ishiura, Shoji Tsuji, Kishin Koh, Yoshihisa Takiyama, Kazuhiro Haginoya . A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. . Journal of human genetics64 ( 2 ) 171 - 176 2019.2Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.

DOI： 10.1038/s10038-018-0538-4

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Papers - TAKASHIMA Hiroshi