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: Roberto Fancellu, Elena Corsini, Giorgio Bernardi, Paolo Buzzo, Maria Luisa Ferrari, Eleonora Lamantea, Alberto Garaventa, Mauro Truini, Sandro Salvarani
• Journal: Functional neurology (Funct Neurol) 2014 Oct-Dec Vol. 29 Issue 4 Pg. 277-80 ISSN: 1971-3274 [Electronic] Italy
• PMID: 25764259 (Publication Type: Case Reports, Journal Article)

Chemical References

• ELAV Proteins

Topics

• Adult
• Cerebellar Ataxia (immunology, pathology)
• ELAV Proteins (immunology)
• Female
• Ganglioneuroma (immunology, pathology)
• Humans
• Magnetic Resonance Imaging
• Mediastinal Neoplasms (immunology, pathology)
• Paraneoplastic Cerebellar Degeneration (immunology, pathology)