ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.
Caleigh Mandel-BrehmLeslie A BensonBaouyen TranAndrew F KungSabrina A MannSara E VazquezHanna RetallackHannah A SampleKelsey C ZornLillian M KhanLauren M KerrPatrick L McAlpineLichao ZhangFrank McCarthyJoshua E EliasUmakanth KatwaChristina M AstleyStuart TomkoJosep DalmauWilliam W SeeleySamuel J PleasureMichael R WilsonMark P GormanJoseph L DeRisiPublished in: Annals of neurology (2022)
Our results support the notion that tumor-associated ROHHAD syndrome is a pediatric PNS, potentially initiated by an immune response to peripheral neuroblastic tumor. ZSCAN1 autoantibodies may aid in earlier, accurate diagnosis of ROHHAD syndrome, thus providing a means toward early detection and treatment. This work warrants follow-up studies to test sensitivity and specificity of a novel diagnostic test. Last, given the absence of the ZSCAN1 gene in rodents, our study highlights the value of human-based approaches for detecting novel PNS subtypes. ANN NEUROL 2022;92:279-291.