• Hiroyuki Yabata, Ryutaro Nakamura, Seiji Sugiyama, Yoshitaka Tamaki, Isamu Yamakawa, Shiori Onoda, Hirohito Ishigaki, Toshimasa Ikeda, Akio Akagi, Yasushi Itoh, Ryoji Kushima, Mari Yoshida, Yasushi Iwasaki, and Makoto Urushitani.
• Department of Neurology, Shiga University of Medical Science, Japan.
• Intern. Med. 2024 Jul 18.

AbstractProgressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare disease associated with the presence of anti-glycine receptor (GlyR) antibodies. We herein report an autopsy case of an 80-year-old man diagnosed with anti-GlyR antibody-positive PERM who presented with symptoms of oculomotor dysfunction and autonomic failure. Despite intensive immunotherapy, the neurological symptoms showed almost no improvement, and the patient succumbed to aspiration pneumonia and bacterial translocation. Postmortem pathology revealed mild inflammatory changes and neuronal loss that were disproportionate to a severe clinical presentation. These results suggest that the clinical symptoms of PERM may result from antibody-mediated GlyR internalization, leading to neuronal disinhibition, rather than a neuroinflammatory signature.

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