RESUMEN
Background: Anti-carbonic anhydrase-related protein VIII (CARPVIII) is reported to be associated with paraneoplastic cerebellar degeneration. Our case extends the spectrum of anti-CARPVIII-associated disease to severe cognitive impairment. Methods: We present the case of a 75-year-old woman who presented to our Department of Psychiatry and Psychotherapy with a dementia syndrome. The diagnostic approach included magnetic resonance imaging (MRI), cerebrospinal fluid analysis (CSF) analysis involving autoantibody determination, and neuropsychological examination. Results: Neuropsychological examination revealed severe cognitive impairment meeting the criteria for dementia. MRI showed evidence of moderate cerebral microangiopathy. CSF analysis revealed mild pleocytosis, and serum analysis revealed anti-CARPVIII autoantibodies. Based on the dementia syndrome entailing signs of CNS inflammation such as pleocytosis and the repeated detection of anti-CARPVIII autoantibodies in serum, we diagnosed autoimmune dementia as a component of mixed dementia with additional vascular dementia components. Conclusion: Our finding adds severe cognitive impairment to the spectrum of anti-CARPVIII-associated disease. However, detecting anti-CARPVIII antibodies may also be an incidental finding in conjunction with typical mixed dementia. Further studies are needed to evaluate the relevance of these clinical findings.
RESUMEN
Background: Neurofascin 186 autoantibodies are known to occur with a diseased peripheral nervous system. Recently, also additional central nervous system (CNS) involvement has been reported in conjunction with neurofascin 186 autoantibodies. Our case enlarges the spectrum of neurofascin 186 antibody-related disease to include mild cognitive impairment (MCI). Methods: We report here a case after having examined the patient files retrospectively, including diagnostics such as blood and cerebrospinal fluid (CSF) analysis involving the determination of neural autoantibodies, brain magnetic resonance imaging (MRI), brain fluorodesoxyglucose positron emission tomography (FDG-PET), and extensive neuropsychological testing. Results: We report on two patients with MCI. Brain MRI showed cerebral microangiopathy in both patients, but brain FDG-PET demonstrated pathology in the right prefrontal cortex, in the right inferior parietal cortex, and in both lateral occipital cortices in one patient. Neurofascin 186 antibodies were detected in serum in both patients, and neurofascin 186 autoantibodies were also detected in the CSF of one of these patients. At follow-up six month later, neurofascin 186 autoantibodies disappeared in one patient while persisting in the other. Conclusion: We report on two individuals presenting MCI associated with neurofascin 186 antibodies, thus expanding the potential spectrum of neurofascin 186-associated disease. This report supports the recommendation to consider also neurofascin 186 autoantibodies in not just peripheral nerve disease, but also in disorders involving CNS autoimmunity. More studies are needed to clarify the lack of association between neurofascin 186 autoantibodies and cognitive decline.
