Akihiro Hashiguchi 研究室

主宰者：Akihiro Hashiguchi

鹿児島大学・Kagoshima University Hospital

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝性末梢神経障害をはじめとする神経系疾患の原因遺伝子の同定と臨床的特徴の解明に取り組んでいます。DNA塩基配列解析や長鎖配列決定技術などのゲノム解析手法を用い、大規模な患者集団から新規の遺伝子変異を検出しています。特に、従来の検査では診断がつかなかった患者に対して、次世代型シークエンシングを活用することで、神経変性疾患の遺伝学的原因を特定する研究を進めています。神経伝導検査、脳脊髄液検査、画像診断など複数の臨床検査手法を組み合わせることで、遺伝子型と臨床症状の関連性を明らかにしています。例えば、異なる遺伝子に変異を持つ患者でも類似した症状を示す場合があれば、逆に同じ遺伝子の変異でも多様な病態を呈することを報告しており、遺伝性神経疾患の多様性を実証的に記述しています。さらに、脊髄性筋萎縮症などの神経筋疾患に対する医療用ロボットを用いた治療法の効果を検討するなど、診断から治療までを含む包括的なアプローチを展開しています。これらの研究成果は、従来分類が困難だった症例の正確な診断と、個別化医療の実現に貢献することを目指しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（43 件）

[2025] Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion
DOI: https://doi.org/10.1038/s10038-025-01437-8
[2025] Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series
DOI: https://doi.org/10.1007/s00415-025-13243-5
[2025] [Peripheral Nerve: Cause and Pathology of Inherited Peripheral Neuropathy].
DOI: https://doi.org/10.11477/mf.188160960770050589
[2025] Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysis
DOI: https://doi.org/10.1186/s13023-025-03681-9
[2025] Visual evoked potential in myelin oligodendrocyte glycoprotein antibody-associated disease
DOI: https://doi.org/10.1016/j.msard.2025.106408
[2025] SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights
DOI: https://doi.org/10.1007/s00415-025-12925-4
[2025] Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis
DOI: https://doi.org/10.1093/braincomms/fcaf165
[2025] A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
DOI: https://doi.org/10.5692/clinicalneurol.cn-002117
[2025] Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy
DOI: https://doi.org/10.1016/j.cnp.2025.10.006
[2024] Visual Evoked Potentials in MOG Antibody-associated Disease (P9-14.007)
DOI: https://doi.org/10.1212/wnl.0000000000204410

続きを表示（残り 33 件）

[2024] CGG Repeat Expansion in LRP12 Causes Inherited Peripheral Neuropathy (S3.006)
DOI: https://doi.org/10.1212/wnl.0000000000204787
[2024] 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
DOI: https://doi.org/10.1007/s00415-024-12236-0
[2024] A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
DOI: https://doi.org/10.1007/s10048-024-00746-y
[2024] Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy
DOI: https://doi.org/10.1136/jnnp-2024-333403
[2023] Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan
DOI: https://doi.org/10.1002/acn3.51936
[2023] Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
DOI: https://doi.org/10.1007/s00415-023-11998-3
[2023] Genetic, electrophysiological, and pathological studies on patients with <scp>SCN9A</scp>‐related pain disorders
DOI: https://doi.org/10.1111/jns.12590
[2023] Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation
DOI: https://doi.org/10.2169/internalmedicine.1713-23
[2023] Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
DOI: https://doi.org/10.3389/fneur.2023.1187822
[2023] HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
DOI: https://doi.org/10.1186/s12891-023-06461-3
[2023] Clinical phenotypic diversity ofNOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan
DOI: https://doi.org/10.1136/jnnp-2022-330769
[2023] Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
DOI: https://doi.org/10.2169/internalmedicine.1403-22
[2023] Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan
DOI: https://doi.org/10.3389/fneur.2023.1078195
[2022] Efficacy of <scp>l</scp>‐Arginine treatment in patients with <scp>HTLV‐1‐associated</scp> neurological disease
DOI: https://doi.org/10.1002/acn3.51715
[2022] Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
DOI: https://doi.org/10.3389/fneur.2022.986504
[2022] Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan
DOI: https://doi.org/10.3389/fneur.2022.952493
[2022] Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
DOI: https://doi.org/10.1007/s00415-022-11305-6
[2022] Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
DOI: https://doi.org/10.3390/biomedicines10071546
[2022] Novel heterozygous variants of <scp>SLC12A6</scp> in Japanese families with <scp>Charcot–Marie–Tooth</scp> disease
DOI: https://doi.org/10.1002/acn3.51603
[2022] A case of successful renal transplantation of <scp>Charcot‐Marie‐Tooth</scp> disease associated with <scp>FSGS</scp> due to mutation of the INF2 gene
DOI: https://doi.org/10.1111/ncn3.12651
[2022] Novel de novo <scp>POLR3B</scp> mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan
DOI: https://doi.org/10.1002/acn3.51555
[2022] Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
DOI: https://doi.org/10.1007/s00415-022-11026-w
[2022] An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
DOI: https://doi.org/10.1038/s10038-022-01019-y
[2022] The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan
DOI: https://doi.org/10.1007/s10072-021-05817-8
[2022] Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
DOI: https://doi.org/10.1038/s10038-021-01005-w
[2022] A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant
DOI: https://doi.org/10.5692/clinicalneurol.cn-001675
[2021] A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
DOI: https://doi.org/10.2169/internalmedicine.8029-21
[2021] An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
DOI: https://doi.org/10.2169/internalmedicine.6487-20
[2021] Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
DOI: https://doi.org/10.1016/s1474-4422(21)00331-8
[2021] Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
DOI: https://doi.org/10.1007/s12311-021-01323-x
[2021] Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
DOI: https://doi.org/10.2169/internalmedicine.7247-21
[2021] A Case of Acute Edematous Dermatomyositis Elevated CK 170,000 U/l
DOI: https://doi.org/10.2169/naika.110.598
[2021] Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan
DOI: https://doi.org/10.1007/s00415-021-10467-z

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AI 要約（直近 5 年の研究成果）

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関連研究室(8 件)

研究成果（43 件）

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