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Development of new diagnostic and surrogate markers for small fiber neuropathy

Research Project

Project/Area Number 15K19184
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Laboratory medicine
Research InstitutionKumamoto University

Principal Investigator

Masuda Teruaki  熊本大学, 医学部附属病院, 助教 (50464459)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords小径線維ニューロパチー / アミロイドーシス / 早期診断 / 皮膚生検 / トランスサイレチン / 表皮内神経線維密度 / MR-neurography / アミロイド / TTR-FAP / 小径線維 / FAP
Outline of Final Research Achievements

Small fiber neuropathy (SFN) is associated with various diseases, including diabetes and transthyretin-related familial amyloid polyneuropathy (ATTR-FAP). Therefore, early and accurate diagnosis of SFN is becoming increasingly important for the early treatment of ATTR-FAP and diabetic neuropathy. In this study, I investigated which biomarker accurately predicts pathological changes in SFN. The results showed early skin denervation in ATTR-FAP, even in the presymptomatic stage of this disease. Skin denervation was correlated with disease duration and various peripheral neuropathy parameters. Our findings reveal that skin biopsy may be useful for early diagnosis and may serve as a biomarker in clinical trials for SFN.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (38 results)

All 2018 2017 2016 2015 Other

All Journal Article (17 results) (of which Peer Reviewed: 17 results,  Open Access: 7 results,  Acknowledgement Compliant: 3 results) Presentation (16 results) (of which Int'l Joint Research: 7 results,  Invited: 1 results) Book (4 results) Remarks (1 results)

  • [Journal Article] Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.2018

    • Author(s)
      Yamashita T, Ueda M, Misumi Y, Masuda T, Nomura T, Tasaki M, Takamatsu K, Sasada K, Obayashi K, Matsui H, Ando Y.
    • Journal Title

      Journal of Neurology

      Volume: 265 Issue: 1 Pages: 134-140

    • DOI

      10.1007/s00415-017-8640-7

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Unwanted road to anemia in transthyretin familial amyloid polyneuropathy may continue irrespective of tafamidis treatment2018

    • Author(s)
      Ikeda T, Masuda T, Ueda M, Yamashita T, Misumi Y, Shinriki S, Ando Y.
    • Journal Title

      Annals of Clinical Biochemistry

      Volume: 印刷中 Issue: 5 Pages: 571-575

    • DOI

      10.1177/0004563218754587

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy.2017

    • Author(s)
      Inoue Y, Ueda M, Tasaki M, Takeshima A, Nagatoshi A, Masuda T, Misumi Y, Kosaka T, Nomura T, Mizukami M, Matsumoto S, Yamashita T, Takahashi H, Kakita A, Ando Y.
    • Journal Title

      Acta Neuropathologica

      Volume: 134 Issue: 4 Pages: 605-617

    • DOI

      10.1007/s00401-017-1720-z

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Inflammatory state exists in familial amyloid polyneuropathy that may be triggered by mutated transthyretin.2017

    • Author(s)
      Suenaga G, Ikeda T, Masuda T, Motokawa H, Yamashita T, Takamatsu K, Misumi Y, Ueda M, Matsui H, Senju S, Ando Y.
    • Journal Title

      Sci. Rep

      Volume: 7(1) Issue: 1 Pages: 1579-2017

    • DOI

      10.1038/s41598-017-01775-4

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy.2017

    • Author(s)
      Masuda T, Ueda M, Suenaga G, Misumi Y, Tasaki M, Izaki A, Yanagisawa Y, Inoue Y, Motokawa H, Matsumoto S, Mizukami M, Arimura A, Deguchi T, Nishio Y, Yamashita T, Inomata Y, Obayashi K, Ando Y
    • Journal Title

      Neurology

      Volume: 88 Issue: 23 Pages: 2192-2197

    • DOI

      10.1212/wnl.0000000000004016

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Serum amyloid P component: A novel potential player in vessel degeneration in CADASIL.2017

    • Author(s)
      Nagatoshi A, Ueda M, Ueda A, Tasaki M, Inoue Y, Ma Y, Masuda T, Mizukami M, Matsumoto S, Kosaka T, Kawano T, Ito T, Ando Y.
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 379 Pages: 69-76

    • DOI

      10.1016/j.jns.2017.05.033

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel transthyretin variant V28S (p.V48S) with a double-nucleotide substitution in the same codon.2017

    • Author(s)
      Okada M, Misumi Y, Ueda M, Yamashita T, Masuda T, Tasaki M, Ando Y.
    • Journal Title

      Amyloid

      Volume: 24 Issue: 4 Pages: 231-232

    • DOI

      10.1080/13506129.2017.1381082

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 肝移植後も緩徐に症候が進行した遺伝性トランスサイレチンアミロイドーシス症例の病理・生化学的検討.2017

    • Author(s)
      水上 真由美, 植田 光晴, 田崎 雅義, 三隅 洋平, 増田 曜章, 松本 紗也加, 木下 祐美子, 末永 元輝, 大林 光念, 山下 太郎, 安東 由喜雄
    • Journal Title

      末梢神経

      Volume: 28 Pages: 101-105

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 皮神経に着目して行う小径線維ニューロパチーの早期診断および病態解析.2017

    • Author(s)
      増田曜章、大林光念、安東由喜雄
    • Journal Title

      自律神経

      Volume: 54 Pages: 230-233

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel screening for transthyretin amyloidosis by using fat ultrasonography.2017

    • Author(s)
      Misumi Y, Ueda M, Yamashita T, Masuda T, Kinoshita Y, Tasaki M, Nagase T, Ando Y
    • Journal Title

      Ann Neurol

      Volume: 印刷中 Issue: 4 Pages: 604-608

    • DOI

      10.1002/ana.24914

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation.2017

    • Author(s)
      Huang G, Ueda M, Tasaki M, Yamashita T, Misumi Y, Masuda T, Suenaga G, Inoue Y, Kinoshita Y, Matsumoto S, Mizukami M, Tsuda Y, Nomura T, Obayashi K, Ando Y
    • Journal Title

      Amyloid

      Volume: 印刷中 Issue: 1 Pages: 1-6

    • DOI

      10.1080/13506129.2016.1276440

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy.2017

    • Author(s)
      Masuda T, Ueda M, Suenaga G, Misumi Y, Tasaki M, Izaki A, Yanagisawa Y, Inoue Y, Motokawa H, Matsumoto S, Mizukami M, Arimura A, Deguchi T, Nishio Y, Yamashita T, Inomata Y, Obayashi K, Ando Y
    • Journal Title

      Neurology

      Volume: in press

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Thomsen disease associated with ptosis and abnormal MR findings2016

    • Author(s)
      Mori Y, Yamashita S, Kato M, Masuda T, Takamatsu K, Kumamoto T, Sasaki R, Ando Y
    • Journal Title

      Neuromuscl Disord

      Volume: 26 Issue: 11 Pages: 805-808

    • DOI

      10.1016/j.nmd.2016.08.016

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.2016

    • Author(s)
      Yamashita T, Ueda M, Saga N, Nanto K, Tasaki M, Masuda T, Misumi Y, Oda S, Fujimoto A, Amano T, Takamatsu K, Yamashita S, Obayashi K, Matsui H, Ando Y.
    • Journal Title

      Amyloid

      Volume: in press Issue: 3 Pages: 207-208

    • DOI

      10.1080/13506129.2016.1202228

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation.2016

    • Author(s)
      Okumura K, Yamashita T, Masuda T, Misumi Y, Ueda A, Ueda M, Obayashi K, Jono H, Yamashita S, Inomata Y, Ando Y.
    • Journal Title

      Amyloid

      Volume: 23 Issue: 1 Pages: 39-45

    • DOI

      10.3109/13506129.2015.1123149

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Therapeutic effects and prevention of recurrence of acquired idiopathic generalized anhidrosis via intravenous immunoglobulin treatment.2016

    • Author(s)
      Masuda T, Obayashi K, Ueda M, Fujimoto A, Tasaki M, Misumi Y, Ueda A, Nakane S, Yamashita T, Ando Y.
    • Journal Title

      J Dermatol

      Volume: 43 Issue: 3 Pages: 336-337

    • DOI

      10.1111/1346-8138.13182

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Rapid detection of wild-type and mutated transthyretins.2015

    • Author(s)
      Tasaki M, Ueda M, Obayashi K, Motokawa H, Kinoshita Y, Suenaga G, Yanagisawa A, Toyoshima R, Misumi Y, Masuda T, Yamashita T, Ando Y
    • Journal Title

      Annals of Clinical Biochemistry

      Volume: epub Issue: 4 Pages: 508-510

    • DOI

      10.1177/0004563215605541

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] Quantification of skin denervation in patients with transthyretin amyloid neuropathy.2018

    • Author(s)
      Masuda T, Ueda M, Misumi Y, Matsumoto S, Nomura T, Tasaki M, Yamashita T, Sonoda Y, Obayashi K, Ando Y.
    • Organizer
      The XVIth International Symposium on Amyloidosis
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Pupillary autonomic dysfunction as an early biomarker in patients with hereditary transthyretin amyloidosis.2018

    • Author(s)
      Masuda T, Ueda M, Nagatoshi C, Misumi Y, Nomura T, Tasaki M, Yamashita T, Obayashi K, Ando Y.
    • Organizer
      The XVIth International Symposium on Amyloidosis
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Two siblings with hereditary transthyretin amyloidosis: a rare TTR variant T49S (p.T69S).2018

    • Author(s)
      Masataka Y, Masuda T, Yamashita T, Ueda M, Misumi Y, Ando T, Masuyama T, Ando Y.
    • Organizer
      The XVIth International Symposium on Amyloidosis
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Skin denervation in patients with hereditary and wild-type transthyretin amyloidosis.2017

    • Author(s)
      Masuda T, Ueda M, Misumi Y, Nomura T, Tasaki M, Yamashita T, Obayashi K, Ando Y.
    • Organizer
      International Society for Autonomic Neuroscience
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Impact of skin denervation in patients with wild-type transthyretin amyloidosis.2017

    • Author(s)
      Masuda T, Ueda M, Misumi Y, Suenaga G, Matsumoto S, Nomura T, Tasaki M, Yamashita T, Obayashi K, Ando Y.
    • Organizer
      XXIII World Congress of Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Pupillary autonomic nervous dysfunction in hereditary transthyretin amyloidosis.2017

    • Author(s)
      Nagatoshi C, Masuda T, Ueda M, Misumi Y, Nomura T, Tasaki M, Yamashita T, Obayashi K, Ando Y.
    • Organizer
      XXIII World Congress of Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 生検皮膚組織を用いたATTRアミロイドーシスの病態評価.2017

    • Author(s)
      増田曜章、植田光晴、安東由喜雄
    • Organizer
      第5回日本アミロイドーシス研究会学術集会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 野生型トランスサイレチンアミロイドーシスにおける小径線維障害の検討.2017

    • Author(s)
      増田曜章、植田光晴、三隅洋平、野村隼也、松本紗也加、田崎雅義、小阪崇幸、山下太郎、大林光念、安東由喜雄
    • Organizer
      第28回日本末梢神経学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 潰瘍性大腸炎患者の自律神経障害および末梢神経障害の病態解析2016

    • Author(s)
      増田曜章, 大林光念, 三隅洋平, 中島昌利, 小林起秋, 徳永竜馬, 吉田直矢, 植田光晴, 樋口理, 中根俊成, 佐々木裕, 馬場秀夫, 安東由喜雄
    • Organizer
      第69回日本自律神経学会
    • Place of Presentation
      くまもと県民交流館パレア, 熊本
    • Year and Date
      2016-11-10
    • Related Report
      2016 Research-status Report
  • [Presentation] 皮神経に着目して行う小径線維ニューロパチーの早期診断および病態解析.2016

    • Author(s)
      増田曜章, 大林光念, 安東由喜雄
    • Organizer
      第69回日本自律神経学会
    • Place of Presentation
      くまもと県民交流館パレア, 熊本
    • Year and Date
      2016-11-10
    • Related Report
      2016 Research-status Report
  • [Presentation] Intraepidermal nerve fiber density as an early diagnostic marker of transthyretin-related familial amyloid polyneuropathy.2016

    • Author(s)
      Masuda T, Ueda M, Suenaga G, Tasaki M, Misumi Y, Yamashita T, Obayashi K, Ando Y
    • Organizer
      The XVth International Symposium on Amyloidosis
    • Place of Presentation
      Uppsala, Sweden
    • Year and Date
      2016-07-03
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] トランスサイレチンアミロイドーシスの表皮内神経線維密度と臨床像の関連2016

    • Author(s)
      増田曜章,植田光晴,岡田匡充,田崎雅義,三隅洋平,山下太郎,大林光念,安東由喜雄
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター, 兵庫県
    • Year and Date
      2016-05-18
    • Related Report
      2016 Research-status Report
  • [Presentation] MR neurographyを用いたトランスサイレチンアミロイドポリニューロパチーの末梢神経障害の解析.2016

    • Author(s)
      増田曜章,植田光晴,三隅洋平,田崎雅義,山下太郎,大林光念,北島美香, 安東由喜雄
    • Organizer
      第4回日本アミロイドーシス研究会学術集会
    • Place of Presentation
      KKRホテル東京, 東京
    • Related Report
      2016 Research-status Report
  • [Presentation] 特発性後天性全身性無汗症に対する免疫グロブリン大量静注療法の効果2015

    • Author(s)
      増田曜章、大林光念、三隅洋平、植田明彦、植田光晴、山下太郎、中根俊成、安東由喜雄
    • Organizer
      第68回日本自律神経学会
    • Place of Presentation
      ウインクあいち
    • Year and Date
      2015-10-29
    • Related Report
      2015 Research-status Report
  • [Presentation] 家族性アミロイドポリニューロパチーの表皮内神経線維密度と臨床像の関連2015

    • Author(s)
      増田曜章、植田光晴、田崎雅義、三隅洋平、山下太郎、大林光念、安東由喜雄
    • Organizer
      第3回日本アミロイドーシス研究会学術集会
    • Place of Presentation
      KKRホテル東京
    • Year and Date
      2015-08-21
    • Related Report
      2015 Research-status Report
  • [Presentation] 家族性アミロイドポリニューロパチーの早期診断における皮膚生検の有用性の検討2015

    • Author(s)
      増田曜章、植田光晴、野村隼也、田崎雅義、三隅洋平、山下太郎、大林光念、安東由喜雄
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ (新潟コンベンションセンター)
    • Year and Date
      2015-05-20
    • Related Report
      2015 Research-status Report
  • [Book] 末梢神経障害 (神経内科Clinical Questions & Pearls)2018

    • Author(s)
      増田曜章, 安東由喜雄
    • Total Pages
      7
    • Publisher
      中外医学社
    • Related Report
      2017 Annual Research Report
  • [Book] 新時代の臨床糖尿病学 (下): 多角的自律神経機能検査 (小径線維障害)2016

    • Author(s)
      増田曜章、大林光念、安東由喜雄
    • Total Pages
      4
    • Publisher
      日本臨床
    • Related Report
      2015 Research-status Report
  • [Book] 難治性内分泌代謝疾患Update: 全身性アミロイドーシス2015

    • Author(s)
      増田曜章、安東由喜雄
    • Total Pages
      4
    • Publisher
      診断と治療社
    • Related Report
      2015 Research-status Report
  • [Book] 臨床に役立つ神経障害性疼痛の理解: アミロイドーシス2015

    • Author(s)
      増田曜章、安東由喜雄
    • Total Pages
      6
    • Publisher
      文光堂
    • Related Report
      2015 Research-status Report
  • [Remarks] 熊本大学大学院生命科学研究部神経内科学分野

    • URL

      http://kumadai-neurology.com/

    • Related Report
      2017 Annual Research Report

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

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