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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Anti-neurochondrin antibody #10547

Closed carolina-f closed 2 months ago

carolina-f commented 4 months ago

Preferred term label:

Synonyms

Definition (free text, please give PubMed ID) The presence of autoantibodies in the serum that react against neurochondrin

PMID: 36437687 Cerebellar ataxia associated with anti-neurochondrin antibodies has only been described in 19 cases; however, the number of unrecognized PACAs (primary autoimmune cerebellar ataxia ) may be higher. As anti-neurochondrin antibodies target an intracellular antigen and exhibit a mainly cytotoxic T-cell-mediated pathogenesis, important therapeutic implications may result. Because of the severe and rapid clinical progression, aggressive immunotherapy was warranted. This case highlights the need for rapid diagnosis and therapy in PACA, as stabilization and even improvement of symptoms are attainable.

Parent term (use hpo.jax.org/app) Autoimmune antibody positivity HP:0030057

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies

Your nano-attribution (ORCID) 0009-0005-6714-5727

pnrobinson commented 2 months ago

@carolina-f Adding new term: