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• Vol.63 No.10
• CLINICA NEUROL, 63: 650−655, 2023
• Vol.63 No.10 contents

Case Report

Case of hereditary Y69H (p.Y89H) transthyretin variant leptomeningeal amyloidosis presenting with drop attacks and recurrent transient language disorder

Natsumi Saito, M.D.¹⁾, Yasuko Kuroha, M.D., Ph.D.¹⁾, Arika Hasegawa, M.D., Ph.D.¹⁾, Mari Tada, M.D., Ph.D.²⁾, Akiyoshi Kakita, M.D., Ph.D.²⁾, Kei Watanabe, M.D., Ph.D.³) and Tetsuya Takahashi, M.D., Ph.D.¹⁾

¹⁾ Department of Neurology, NHO Nishiniigata Chuo Hospital
²⁾ Department of Pathology, Brain Research Institute, Niigata University
³⁾ Department of Orthopedic Surgery, Niigata University School of Medicine

We report a 73-year-old woman who started developing recurrent transient aphasia at the age of 66 years. During the attacks, she was aware she could not understand what was being said and both her spoken and written speech were meaningless. The attacks usually lasted for a few days, following which she could explain what had happened. Antiepileptics did not improve her symptoms. She also noticed tremor of her right hand and gait disturbance at the age of 71 years. The recurrent transient aphasia was followed by drop attacks. At the time of her admission to our hospital, she showed paraplegia, phonological paraphasia, and difficulty in understanding complex sentences. Her language disturbance resembled a logopenic variant of primary progressive aphasia. However, the symptoms fluctuated for a few days and subsequently improved. Electroencephalography showed no abnormalities. Gadolinium-enhanced brain and spinal MRI showed diffuse leptomeningeal enhancement over the surface of the spinal cord, brain stem, and cerebrum on T₁-weighed imaging. Surgical biopsy of a varicose vein in the subarachnoid space at the level of the Th11 spinal cord was performed. Pathological evaluation of the biopsied specimens revealed TTR-immunolabeled amyloid deposits in the subarachnoid vessel walls and on the arachnoid membrane. Gene analysis revealed c.265T>C, p.Y89H (Y69H) TTR mutation, which is known as one of the causative mutations of familial leptomeningeal amyloidosis. Leptomeningeal forms of transthyretin amyloidosis might present transient focal neurological episodes.
Full Text of this Article in Japanese PDF (2840K)

(CLINICA NEUROL, 63: 650−655, 2023)
key words: transthyretin amyloidosis, leptomeningeal amyloidosis, Y69H, drop attack, logopenic variant of primary progressive aphasia

(Received: 23-Feb-23)