Abstract Details

Title ZSCAN1 Antibodies in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome

Topic Child Neurology and Developmental Neurology

Presentation(s) P8 - Poster Session 8 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-002

Objective To report the association of ZSCAN1- abs with ROHHAD syndrome in patients without tumor.

Background Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare disease, the pathogenesis of which has been suggested to be immune-mediated because of the frequent coexistence with neuroblastic tumors, which can potentially trigger the immune response. Antibodies targeting zinc finger and SCAN domain containing 1 protein (ZSCAN1-abs) were recently identified in pediatric patients with ROHHAD syndrome and underlying neuroblastic tumors.

Design/Methods Patients with ROHHAD syndrome 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 non-inflammatory disorders and 50 healthy participants served as controls.

Results

Fourteen patients with ROHHAD syndrome without an associated tumor were identified. Of these, we had paired serum/CSF samples from 7 patients and only serum from the other 7. All patients (6 children, 1 adult) with paired serum/CSF had ZSCAN-abs (6 only in CSF, 1 in both CSF and serum). One patient had co-existing Hu-abs despite the absence of an associated tumor. ZSCAN1-abs were not detected in the remaining 7 ROHHAD patients from whom only serum was available or in any of the 199 control samples.

Conclusions

Patients with ROHHAD syndrome with or without tumor should be investigated for the presence of ZSCAN1-abs in CSF even if other neuronal antibodies are detected. The coexistence with well-defined onconeuronal antibodies such as Hu supports the hypothesis of a paraneoplastic immune-mechanism in some patients. Our findings suggest that this disorder can also occur in adults.

Authors/Disclosures
Gemma Olivé, MD PRESENTER	Dr. Olivé has nothing to disclose.
Ana Beatriz Serafim, MSc	Miss Serafim has received research support from Fundação para as ciências e tecnologia.
Mateus M. Simabukuro, MD (Hospital Das Clinicas, Sao Paulo U Scho of Med)	Dr. Simabukuro has nothing to disclose.
Ángel Ortega-González, MD	Dr. Ortega-González has nothing to disclose.
Michael Kruer, MD (Sanford Children's Speciality Clinic)	Dr. Kruer has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for PTC Therapeutics. The institution of Dr. Kruer has received research support from NIH NINDs. The institution of Dr. Kruer has received research support from Medtronic . Dr. Kruer has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant with NHRSA.
Debra E. Weese-Mayer, MD	The institution of Dr. Weese-Mayer has received research support from NIH. The institution of Dr. Weese-Mayer has received research support from FDA.
Casey Rand, MS	Mr. Rand has nothing to disclose.
Carme Fons, MD, PhD	Dr. Fons has nothing to disclose.
Joaquín Alejandro Fernández Ramos, MD	Dr. Fernández Ramos has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen.
Elianet Fonseca, MD (HOSPITAL CLINICO DE BARCELONA)	Dr. Fonseca has nothing to disclose.
Maria Clemente, PhD	Dr. Clemente has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for DEXCOM. Dr. Clemente has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for NOVONORDISK. Dr. Clemente has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for AIRLIQUIDE.
Emília K. Leão, MD	Dr. Leão has nothing to disclose.
Salvador Ibanez-Mico, MD	Dr. Ibanez-Mico has nothing to disclose.
Josep O. Dalmau, MD, PhD, FAAN	Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astellas Research Institute of America. Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen Research & Development . Dr. Dalmau has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for ��ɫ��. An immediate family member of Dr. Dalmau has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Dr. Dalmau has received research support from Sage Therapeutics. The institution of Dr. Dalmau has received research support from Edmond J.Safra Foundation . The institution of Dr. Dalmau has received research support from La Caixa Foundation. The institution of Dr. Dalmau has received research support from Spanish Ministry of Health (ISCIII). The institution of Dr. Dalmau has received research support from Euroimmun, Inc. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care.
Francesc R. Graus, MD (IDIBAPS)	Dr. Graus has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MedLink. Dr. Graus has received intellectual property interests from a discovery or technology relating to health care.
Thais Armangue, MD (IDIBAPS-HClinic)	Dr. Armangue has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. The institution of Dr. Armangue has received research support from ISCIII(Spanish institute of health) -PI21/00316, Marato TV3, La Caixa Research Foundadion, Pablove Foundation (689368), Torrons Vicens Foundation (PFNR0144), 2021 Invest AEP.
Lidia Sabater, PhD	The institution of Dr. Sabater has received research support from Instituto de Salud Carlos III.

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