Establishment of ultra-early diagnostic methods for familial amyloid polyneuropathy

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K15455
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Kumamoto University
• Principal Investigator: Masuda Teruaki 熊本大学, 病院, 助教 (50464459)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: トランスサイレチン / アミロイドーシス / 小径線維ニューロパチー / 自律神経 / 皮膚生検

Outline of Final Research Achievements

In this study, we focused on small fiber neuropathy, which presents earliest in patients with transthyretin-type familial amyloid polyneuropathy (TTR-FAP), to develop a suitable biomarker for the disease. Histopathological analysis revealed early denervation of intraepidermal rather than sweat gland nerves. Additionally, we found that sensory deficits in the anterior trunk of patients with early stage TTR-FAP were caused by small fiber neuropathy. Furthermore, MR-neurography and pupillometry methods established in this study, were found to reflect the disease state of patients. By combining these methods, we devised an evaluation algorithm for ultra-early diagnosis and evaluation of the disease state.

Free Research Field

脳神経内科学

Academic Significance and Societal Importance of the Research Achievements

様々な疾患修飾療法が開発され、根治療法が望める時代になったTTR-FAPにおいて、本研究で考案した検査法を用いて小径線維の異常を検出し、早期診断および早期治療に導くことで、TTR-FAP患者のQOLおよび生命予後の改善が期待できる。さらに、本研究の評価法は、糖尿病や他のアミロイドニューロパチーをはじめ様々な小径線維ニューロパチーを来す疾患の評価法としても応用可能であり、臨床試験のバイオマーカーとしても期待される。