Rinsho Shinkeigaku (Clinical Neurology)

Case Report

ATTRv amyloidosis with early improvement demonstrated by the 6-minute walk test following Patisiran therapy: a case report

Shinya Oginezawa, M.D.1), Tomohiko Ishihara, M.D., Ph.D.1), Yohei Iwafuchi, M.D.1), Yuya Hatano, M.D.1), Ken Kashimura, M.D., Ph.D.2) and Osamu Onodera, M.D., Ph.D.1)

1) Department of Neurology, Brain Research Institute, Niigata University
2) Department of Cardiology, Niigata University Medical and Dental Hospital

We report the case of a 65-year-old man who gradually developed numbness in both hands, lower limb muscle weakness and atrophy, and orthostatic hypotension over two and a half years. These symptoms indicated hereditary ATTR amyloidosis (ATTRv amyloidosis), and the final diagnosis was established through proof of TTR gene mutation (V30M). We initiated patisiran therapy, and a continuous 6-minute walking test performed 3 weeks from the start of therapy demonstrated improvement in the walking distance. This is a single case report showing the improvement in the motor and sensory function on administration of patisiran monotherapy from an early stage.
Full Text of this Article in Japanese PDF (2434K)

(CLINICA NEUROL, 62: 375|379, 2022)
key words: patisiran, ATTRv amyloidosis, V30M mutation, 6-minute walking test, neuropathy

(Received: 2-Sep-21)