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ISSN: 2333-9721
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-  2019 

Cerebellar Ataxia With Extreme Photophobia Associated With Anti

DOI: 10.1177/1941874418802130

Keywords: cerebellar ataxia,paraneoplastic cerebellar degeneration,SOX1 protein

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Abstract:

Anti-SOX1 antibodies are associated with diverse neurological syndromes, targeting both the central (paraneoplastic cerebellar degeneration) and peripheral nervous systems (Lambert Eaton myasthenic syndrome, paraneoplastic neuropathy). Although the pathogenic role of these antibodies remains unclear, their strong association with underlying neoplastic disease (mainly small-cell lung cancer) has designated them as onconeural antibodies. Here, we present a case of cerebellar ataxia with marked photophobia, with severe atrophy of the cerebellum and brain stem, associated with anti-SOX1 antibodies without evidence of an underlying malignancy. Although anti-SOX1-associated cerebellar syndrome is infrequent, investigation of these antibodies should be considered as a part of the diagnostic algorithm if more common causes have been ruled out. Extensive brain stem lesions causing disruption of the trigeminal pathway and its connections with the pretectal area might explain the underlying mechanism of the associated photophobia. Early recognition of anti-SOX1 antibodies, exclusion of underlying neoplasm, and prompt initiation of immunotherapy are essential to achieve a better outcome

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