Autoantibodies against nodal and paranodal proteins, specifically anti-neurofascin antibodies (ANFAs), have been recently described in central and peripheral nervous system demyelinating disorders. We retrospectively reviewed the charts of six individuals evaluated at our Multiple Sclerosis Program who tested positive for serum ANFAs on Western blot. We describe these patients’ clinical and diagnostic findings and attempt to identify features that might guide clinicians in checking for ANFAs. In our series, the women-to-men ratio was 2:1. At presentation, the median age was 60 years (range 30–70). The clinical presentation was pleiotropic and included incomplete transverse myelitis (n = 3), progressive myelopathy (n = 1), recurrent symmetric polyneuropathy (n = 1), and nonspecific neurological symptoms (n = 1). Atypical features prompting further workup included coexisting upper and lower motor neuron features, older age at presentation with active disease, atypical spinal cord MRI features, and unusual cerebrospinal fluid findings. The serum ANFAs panel was positive for the NF-155 isoform in five patients (IgM n = 2; IgG n = 2; both n = 1) and the NF-140 isoform in two (IgG n = 2). Larger studies are needed to assess the relevance of ANFAs in demyelinating nervous system diseases, their impact on long-term clinical outcomes, and associated therapeutic implications.

BACKGROUND: Deep brain stimulation (DBS) and responsive neurostimulation are increasingly being used to treat drug-resistant epilepsy (DRE). However, patients who experience partial or limited improvement in seizure control could require additional surgical interventions or refinement of their epilepsy network characterization, including further stereo-electroencephalography (SEEG) investigations. SEEG in the setting of previously implanted hardware demonstrates a myriad of technical challenges. The authors present the first reported demonstration of SEEG electrode implantation with a preexisting DBS device. OBSERVATIONS: The patient was a 36-year-old male with a history of severe DRE with focal impaired awareness seizures beginning at 7 years of age. Despite having a bilateral DBS device for the anterior nucleus of the thalamus, he continued to have 1–2 seizures per day and was offered SEEG. The patient tolerated the surgery well without any morbidity, with a successfully improved definition of his epilepsy network. SEEG allowed the medical team to titrate stimulation settings while following intracranial electrographic response. LESSONS: SEEG in the setting of preexisting DBS can be performed safely without damage to functioning hardware, and the authors obtained characterization and localization of the epilepsy network. Further follow-up will be needed to assess the efficacy outcomes of additional intervention in this patient. https://thejns.org/doi/10.3171/CASE24854

Amyloid-beta related angiitis (ABRA) is a rare central nervous system inflammatory and vasculitic process. It is seen in patients with cerebral amyloid angiopathy (CAA) and thought to be mediated by an autoimmune reaction against cerebrovascular β-amyloid. We describe the case of a patient with ABRA with clinical information and brain imaging over a 10-year period. The patient was hospitalized in 2018 for altered mental status, paranoia and hallucinations. Her symptoms started in 2009 with an episode of vertigo and loss of consciousness. From 2011-2019, she had multiple episodes of transient focal neurological deficits with overall cumulative progressive decline in cognition and functional status. Retrospective and comparative reviews of brain magnetic resonance imaging (MRI) from 2009-2019 showed waxing and waning vasogenic cerebral edema with overall progression of white matter hyperintensities and peripheral micro-hemorrhages consistent with inflammatory CAA. Re-examination of a brain biopsy from 2009 showed ABRA, and immunostaining was positive for β-amyloid. She was treated with intravenous steroids with minimal symptomatic improvement. She was lost to our follow-up after hospital discharge. We describe the temporal progression of ABRA through serial brain imaging over a 10-year period. To our knowledge, this is the longest published follow-up duration of ABRA. The patient in our case had severe cognitive impairment and disability despite treatment with steroids.