title: Paraneoplastic cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma.
abstract: We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluorescence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diagnosis was maturing ganglioneuroma. Immunohistochemistry showed a mild reaction between the tumor and the patient's serum, and no reaction between the tumor and control serum. After surgery, serum anti-Hu titer decreased, while ataxic symptoms initially worsened and then stabilized. Ganglioneuroma is a benign tumor, usually derived from the maturation of a neuroblastoma. The benign histology and the presence of anti-Hu antibodies could be related to the positive oncological prognosis and to the slow clinical course mimicking a degenerative ataxia.
authors.forename: Roberto
authors.initials: R
authors.lastname: Fancellu
authors.forename: Elena
authors.initials: E
authors.lastname: Corsini
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bernardi
authors.forename: Paolo
authors.initials: P
authors.lastname: Buzzo
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Ferrari
authors.forename: Eleonora
authors.initials: E
authors.lastname: Lamantea
authors.forename: Alberto
authors.initials: A
authors.lastname: Garaventa
authors.forename: Mauro
authors.initials: M
authors.lastname: Truini
authors.forename: Sandro
authors.initials: S
authors.lastname: Salvarani
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000276:immunology / Q000473:pathology*; D051959:ELAV Proteins / Q000276:immunology*; D005260:Female; D005729:Ganglioneuroma / Q000276:immunology / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008479:Mediastinal Neoplasms / Q000276:immunology / Q000473:pathology*; D020362:Paraneoplastic Cerebellar Degeneration / Q000276:immunology / Q000473:pathology*
chemical_list: D051959:ELAV Proteins