Affiliations: [a] Department of Neurosciences, University of Padua, Padua, Italy
| [b] Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
| [c] Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
Correspondence:
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Correspondence to: Salvatore Monaco, MD, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Piazzale LA Scuro, 10, 37134, Verona, Italy. Tel.: +39 045 8124768; Fax: +39 045 8027492; E-mail: salvatore.monaco@univr.it.
Abstract: A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies to the neuronal cell-adhesion molecule IgLON5. We describe a patient with anti-IgLON5 syndrome, who presented with dysautonomia and sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed neuronal tau pathology prevailing in the hippocampus, amygdala, and locus coeruleus, in addition to microglial/neuronal TDP-43 pathology, with overexpression of aberrantly phosphorylated forms and neurotoxic truncated fragments, in basal ganglia, nucleus basalis, thalamus, and midbrain. These findings suggest that neurodegeneration in anti-IgLON5 syndrome might also occur via a microglia-triggered non-cell autonomous pathway.
