TY - JOUR
T1 - Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome
AU - Serafim, Ana Beatriz
AU - Olivé-Cirera, Gemma
AU - Ortega-González, Ángel
AU - Kruer, Michael C.
AU - Weese-Mayer, Debra
AU - Rand, Casey M.
AU - Fons, Carmen
AU - Fernández-Ramos, Joaquín Alejandro
AU - Clemente, Maria
AU - Simabukuro, Mateus Mistieri
AU - Embiruçu, Emilia Katiane
AU - Ibáñez-Micó, Salvador
AU - Dalmau, Josep O.
AU - Graus, Francesc
AU - Armangué, Thais
AU - Sabater, Lidia
N1 - Publisher Copyright:
Copyright © 2024 The Author(s).
PY - 2024/6/25
Y1 - 2024/6/25
N2 - Objectives To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor. Methods Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls. Results Thirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/ CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples. Discussion Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
AB - Objectives To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor. Methods Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls. Results Thirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/ CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples. Discussion Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
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U2 - 10.1212/NXI.0000000000200276
DO - 10.1212/NXI.0000000000200276
M3 - Article
C2 - 38917381
AN - SCOPUS:85198091679
SN - 2332-7812
VL - 11
JO - Neurology: Neuroimmunology and NeuroInflammation
JF - Neurology: Neuroimmunology and NeuroInflammation
IS - 5
ER -
