Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure.

Autor:	Yabata H; Department of Neurology, Shiga University of Medical Science, Japan.; Department of Neuropathology, Institute for Medical Science of Aging, Japan., Nakamura R; Department of Neurology, Shiga University of Medical Science, Japan., Sugiyama S; Department of Neurology, Shiga University of Medical Science, Japan., Tamaki Y; Department of Neurology, Shiga University of Medical Science, Japan., Yamakawa I; Department of Neurology, Shiga University of Medical Science, Japan., Onoda S; Division of Diagnostic Pathology, Shiga University of Medical Science Hospital, Japan., Ishigaki H; Department of Pathology, Shiga University of Medical Science, Japan., Ikeda T; Department of Neuropathology, Institute for Medical Science of Aging, Japan., Akagi A; Department of Neuropathology, Institute for Medical Science of Aging, Japan., Itoh Y; Department of Pathology, Shiga University of Medical Science, Japan., Kushima R; Division of Diagnostic Pathology, Shiga University of Medical Science Hospital, Japan.; Department of Pathology, Shiga University of Medical Science, Japan., Yoshida M; Department of Neuropathology, Institute for Medical Science of Aging, Japan., Iwasaki Y; Department of Neuropathology, Institute for Medical Science of Aging, Japan., Urushitani M; Department of Neurology, Shiga University of Medical Science, Japan.
Jazyk:	angličtina
Zdroj:	Internal medicine (Tokyo, Japan) [Intern Med] 2024 Jul 18. Date of Electronic Publication: 2024 Jul 18.
DOI:	10.2169/internalmedicine.3741-24
Abstrakt:	Progressive 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.
Databáze:	MEDLINE
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