Evidence map›Paper›PMID 39556523›Full record

ArticleAnnals of clinical and translational neurology2025

Phenotypic and oncological insights in ANNA1 autoimmunity: Age stratification and biomarker analysis.

Naveen Kumar Paramasivan, Majed Masoud, Carley Karsten, Anza Zahid, Haidara Kherbek, Anastasia Zekeridou, Sri Raghav Sista, Surendra Dasari, Andrew M Knight, Georgios Mangioris and 4 more

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Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Naveen Kumar ParamasivanDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-2185-4385
Majed MasoudDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Carley KarstenDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Anza ZahidDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Haidara KherbekDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-0263-0378
Anastasia ZekeridouDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-1960-9065
Sri Raghav SistaDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Surendra DasariDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Andrew M KnightDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Georgios MangiorisDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
John R MillsDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Andrew McKeonDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-6856-8143
Sean J PittockDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Divyanshu DubeyDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-4302-4075

Funding

Genentech
6 · The paper itself

Abstract

objectiveTo describe the phenotypes, oncological associations, biomarker profiles, and outcomes across different age groups in patients with ANNA1 (anti-Hu) autoimmunity.

methodsA retrospective review of patients with ANNA1-IgG in serum/CSF between January 1, 2001, and December 31,2019 was performed. Patients were classified into three groups based on the age of symptom onset. Phage immunoprecipitation sequencing (PhIP-Seq) and neurofilament light chain (NfL) measurements were done in patient sera/CSF with archived samples.

resultsOf 122 patients, 81 (66%), 20 (16%), and 21 (17%) patients belonged to older adults, young adults, and pediatric groups, respectively. Lung cancer and neuromuscular presentations were more common in older adults (p < 0.001), while limbic encephalitis and neuroblastoma were more common in pediatric patients (p < 0.005). Most young adults (75%) did not have cancer identified. Proportions of patients with a favorable response to immunotherapy were 20%, 30%, and 52% among older adults, young adults, and pediatric groups, respectively. PhIP-Seq demonstrated significant enrichment for ELAVL4 peptides especially for amino acids 240-289, in the majority of samples evaluated (36/67, 54%). ZIC and SOX2 peptides were significantly enriched in those with central nervous system presentations. Serum NfL levels were elevated in patients with cancer and those with poor long-term outcomes.

interpretationYoung adults with ANNA1 autoimmunity phenotypically resembled older adults but rarely had an underlying cancer. Pediatric patients frequently presented with limbic encephalitis and neuroblastoma and often responded favorably to immunotherapy. Distinct antigenic signatures may underlie differences in clinical presentations. Serum NfL levels may be a biomarker of poor long-term outcomes in ANNA1 autoimmunity.

Indexed as

AutoantibodiesAutoimmunityLimbic EncephalitisLung NeoplasmsNeuroblastomaAdolescentAdultAgedAged, 80 and overAge FactorsBiomarkersChildChild, PreschoolFemaleHumansMaleAutoantibodiesBiomarkersneurofilament protein LNeurofilament Proteins

Identifiers

PMID39556523
PMCPMC11822791

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