Autoimmune septin-5 cerebellar ataxia

Neurology. Neuroimmunology and Neuroinflammation
Josephe A HonoratAndrew McKeon

Abstract

To report a form of autoimmune cerebellar ataxia in which antibodies target septin-5, a guanosine triphosphate (GTP)-binding neural protein involved in neurotransmitter exocytosis. Archived sera and CSF specimens with unclassified synaptic antibodies were re-evaluated by tissue-based indirect immunofluorescence assay. Autoantigens were identified by Western blot and mass spectrometry. Recombinant protein assays (Western blot, cell based, and protein screening array) confirmed antigen specificity. Serum and CSF from 6 patients produced identical synaptic immunoglobulin G (IgG) staining patterns of synaptic regions (neuropil) of the mouse cerebrum and cerebellum. The molecular layer of the cerebellum and the thalamus demonstrated stronger immunoreactivity than the midbrain, hippocampus, cortex, and basal ganglia. The antigen revealed by mass spectrometry analysis of immunoprecipitated cerebellar proteins and confirmed by recombinant protein assays was septin-5. All 4 patients with records available had subacute onset of cerebellar ataxia with prominent eye movement symptoms (oscillopsia or vertigo). None had cancer detected. Improvements occurred after immunotherapies (2) or spontaneously (1). One patient died. Septin-5 IgG repre...Continue Reading

References

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Citations

Aug 3, 2019·Neurology·Josephe A HonoratAndrew McKeon
Dec 28, 2018·Neurology. Neuroimmunology and Neuroinflammation
Sep 13, 2019·Neurology. Neuroimmunology and Neuroinflammation·Shahar ShellyAndrew McKeon
Sep 4, 2018·Neurology. Neuroimmunology and Neuroinflammation·Harald Prüss
Jan 30, 2019·Current Opinion in Neurology·Bastien Joubert, Jerome Honnorat
Jul 14, 2020·Frontiers in Immunology·Lidia YshiiRoland Liblau
Dec 29, 2020·Annals of Clinical and Translational Neurology·Andrew McKeonSean J Pittock
Feb 15, 2021·Annals of Neurology·Divyanshu DubeySean J Pittock
May 7, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Bettina BalintJosep Dalmau
May 13, 2021·Nature Reviews. Immunology·Harald Prüss
Feb 26, 2021·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Jorge C KattahAndrew B McKeon
May 20, 2021·Current Opinion in Neurology·Bettina Balint, Kailash P Bhatia
May 26, 2021·Neurology·Alejandro Herrero San MartinDaniel Toledo Alfocea
Oct 29, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Valentina DamatoRaffaele Iorio
Jan 13, 2022·The Cerebellum·Sergio Muñiz-CastrilloJérôme Honnorat

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Methods Mentioned

BETA
transfection
immunoprecipitation
Confocal microscopy

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