Faculty Bibliography

Definitive endoluminal reconstruction, widely known as flow diversion, revolutionized treatment of brain aneurysms. A range of targets, by location, size, etiology, and acuity, can be cured with an excellent risk/benefit profile. Requirement for effective antiplatelet state is balanced with superior treatment durability. Implant and delivery system technology continue to evolve. Some aneurysm types/locations remain undertreated. Maximizing efficacy while minimizing risks requires deep understanding of flow diversion principles, pathologic anatomy, endoluminal implants, delivery systems, and clinical management.

The loss of maternal UBE3A causes Angelman syndrome whereas its duplication is associated with a heterogeneous neurodevelopmental disorder. Here, we describe two affected brothers who possess a novel UBE3A^L734S variant that is not present in two neurotypical siblings. The UBE3A^L734S variant was confirmed to be maternally inherited, and the affected individuals exhibited early global developmental delay, ongoing learning difficulties, and autistic features. Their phenotypes were inconsistent with Angelman syndrome. Biochemical characterization showed the UBE3A^L734S variant causes a dramatic increase in the activity of the UBE3A enzyme, suggesting that a gain in UBE3A activity is the driver of neurodevelopmental disease. Our observations document an emerging class of neurodevelopmental disorders caused by gain-of-function mutations in UBE3A.

This article looks at the current state of aneurysm risk modeling, exploring the limitations of linear measurement. It reviews articles using Food and Drug Administration (FDA)-approved artificial intelligence-driven volumetric measurement tools both for evaluating potential aneurysm growth in patients being managed conservatively as well as in assessing morphologic change prerupture and postrupture. The challenges of defining the aneurysm boundary are explored, and a novel definition of aneurysm/parent artery interface is proposed.

Although the concept of treating cerebral aneurysms by filling the sac from the inside (endosaccular) started many years ago first with detachable balloons and then coils, the use of a single metallic resheathable device acting as a flow disruptor is a much more recent innovation. The most studied device among these is certainly the WEB, which became part of standard clinical practice for treatment of wide-neck bifurcation aneurysms. This study reviews the most important features of the WEB device with a short summary of the most important literature. A small section at the end reviews also other endosaccular devices.

Imaging follow-up is an established component of intracranial aneurysm management that allows ongoing assessment of rupture risk and timely intervention to maintain protection from bleeding. Yet the frequency, duration, and imaging modality for follow-up vary widely. This review outlines contemporary imaging techniques and practice for follow-up of treated and untreated aneurysms, highlighting existing knowledge gaps and technical limitations that limit standardization. Updated evidence on the expected evolution and long-term outcome of common treatment strategies is presented to guide accurate reporting of radiological outcome after treatment and considerations regarding follow-up regimen.

Brain death/death by neurologic criteria (BD/DNC) is accepted as legal death throughout much of the world. The World Brain Death Project and a subsequent review of the literature through 2023 highlighted several medicolegal controversies related to BD/DNC in Canada, the United Kingdom, and the United States but did not discuss medicolegal controversies related to BD/DNC in low- and middle-income countries, such as India. Although the Transplantation of Human Organs Act of 1994 acknowledged BD/DNC as death in India, BD/DNC evaluations are not always completed when BD/DNC is suspected. This has been attributed to lack of awareness/acceptance by medical professionals, lack of public awareness/acceptance of BD/DNC, communication challenges, fear, time limitations, and the inclusion of BD/DNC in organ donation law (but not general law). There has been a gradual rise in the number of donations after BD/DNC (a correlate for the number of BD/DNC determinations) in southern and western states, but the number of donations after BD/DNC has decreased in the southwestern state of Kerala in the setting of recent medicolegal controversies. This article reviews the history of BD/DNC determination in India as a whole, then describes the recent medicolegal controversies related to BD/DNC in the state of Kerala. Finally, these controversies are contextualized relative to the aforementioned controversies in high-income countries. Three key international themes of medicolegal controversies related to BD/DNC are regulation, religion, and resource allocation. The global neurocritical care community must advocate for consistency and accuracy in BD/DNC determination and collaborate with legal and policy experts to develop means to mitigate these challenges through revisions to the law, standardization of practice and policies, education, and communication.

Documentation, coding, and billing (claims submission) are foundational to neurologic practice in the United States, enabling accurate reimbursement, effective communication, and data-driven advancements in patient care, research, and education. Neurologists navigate complex regulatory frameworks and evolving payer guidelines, requiring meticulous attention to diagnostic coding, evaluation and management (E/M) services, and procedure-specific requirements. This chapter examines critical aspects of neurologic billing and coding, including ICD-10-CM (International Classification of Diseases, Tenth Revision, Clinical Modification) for diagnostic accuracy, updated E/M guidelines emphasizing medical decision-making and time, and new telemedicine codes. It highlights the best practices for procedure coding and the use of digital health technologies. The challenges posed by prior authorization are explored, alongside potential solutions like artificial intelligence-driven tools and policy reform. By prioritizing precision, compliance, and technological adaptation, neurologists can enhance patient outcomes, support practice sustainability, and contribute to the broader goals of equitable, efficient, and innovative neurologic care.

BACKGROUND:Metabolic dysfunction-associated steatotic liver disease (MASLD) increases risk of cardiovascular disease (CVD). Despite the high prevalence of MASLD among Hispanic populations, there is a scarcity of research on the associations between non-invasive markers of liver disease and incident CVD and all-cause mortality. In this study we investigated the association of liver related biomarkers with CVD events and all-cause mortality in a population based Hispanic/Latino cohort. METHODS:We included 15,216 participants from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) aged 18-74 years with no pre-existing CVD. The composite outcome combined incident CVD and all-cause mortality. Having "elevated ALT/AST" was defined as ALT > 40 IU/mL or AST > 37 IU/mL for males, and ALT or AST > 31 IU/mL for females. We estimated adjusted hazard ratios (HR) and 95% confidence intervals (CI) relating our composite outcome to elevated ALT/AST, FIB-4 and MASLD. Using interaction terms, we assessed whether the relationship between elevated ALT/AST and the composite outcome differed by MASLD status. RESULTS:The study population was 40 years old on average, 52.7% female and had 740 CVD or all-cause mortality events. Elevated FIB-4 had the strongest association with incident CVD or all-cause mortality (comparing FIB-4 > 2.67 versus ≤ 2.67, HR:3.47; CI:2.34-5.14). Elevated AST was found to be associated with incident CVD or all-cause mortality (HR:1.53; CI:1.14-2.05). MASLD was not associated with incident CVD or all-cause mortality (HR:1.14; CI: 0.94-1.40), but it was associated with incident CVD alone (HR:1.69; CI:1.19-2.39). The relationship between elevated ALT/AST and incident or all-cause mortality was modified by MASLD, such that the strongest association between elevated ALT/AST and incident CVD or all-cause mortality was in the absence of MASLD (HR:1.95; CI:1.20-3.18). CONCLUSIONS:Among Hispanic adults FIB-4 was strongly associated with CVD or all-cause mortality and among persons without MASLD, elevated ALT/AST were associated with CVD or all-cause mortality.

BACKGROUND:Small tectal gliomas (TGs) may be unrecognized at initial diagnosis of noncommunicating hydrocephalus, with the etiology typically attributed to idiopathic congenital aqueductal stenosis (CAS). There are 2 published cases of TGs found on follow-up imaging after treatment with endoscopic third ventriculostomy (ETV). The authors investigated for this phenomenon in a large cohort of patients with TG or CAS treated with ETV or CSF shunting. OBSERVATIONS/METHODS:The authors reviewed records at their institution from 1999 to 2024, identifying 10 patients initially diagnosed with presumed idiopathic CAS and later found to have underlying TG. Of these, 7 were younger than 1 year of age at hydrocephalus presentation. The median time from CAS to glioma diagnosis was 13 months. Reasons for repeat imaging that identified glioma included postoperative surveillance and recurrent hydrocephalus. Five (50%) lesions grew over follow-up, and 2 required chemotherapy. LESSONS/CONCLUSIONS:The authors describe the eventual emergence of TG as a probable cause of hydrocephalus in a cohort of patients initially diagnosed with CAS. As most of these cases were identified incidentally on interval imaging to evaluate adequate function of CSF diversion procedures, follow-up imaging to evaluate for tectal expansion should be considered in children, particularly infants, with a new diagnosis of idiopathic CAS. https://thejns.org/doi/10.3171/CASE24695.

PURPOSE/OBJECTIVE:To compare the performance of different measures of long-term psychiatric outcomes in patients with post-acute autoimmune encephalitis (AE) who may require comprehensive psychiatric evaluation. METHODS:The sensitivity of three self-reported measures of mood and anxiety symptoms (Patient Health Questionnaire [PHQ-9]; Profiles of Mood States-2 [POMS-2]; Generalized Anxiety Disorder 7-item [GAD7]) was compared with a structured clinician-administered tool (Mini Neuropsychiatric Inventory 7.0.2 [MINI 7.0.2]). New cutoff scores that optimized accuracy were then identified by Youden Index Method. RESULTS:Thirty-five patients with post-acute AE completed testing a median of 3 years after symptomatic onset (range = 1-22 years). The median PHQ9 score was 5 (range = 0-18), median POMS2 Total Mood Disturbance T-Score was 52 (range = 37-93), and median GAD7 score was 3 (range = 0-17). Twenty-five patients (71 %) met criteria for a psychiatric diagnosis on the MINI. When compared with the MINI, the sensitivity and specificity of the self-reported psychiatric symptom tools using standard cutoffs were 25 % and 80 % for the PHQ9, 50 % and 87 % for the POMS-2, 23 % and 91 % for the GAD7. Accuracy was improved when cutoffs of ≥5 for the PHQ9, ≥50 for the POMS2, and ≥ 3 for the GAD7 were used, at the cost of lower specificity. CONCLUSIONS:Patients with post-acute AE with psychiatric sequalae may be underrecognized if self-reported measures of psychiatric symptoms are used instead of clinician-administered structured interviews. If self-reported measures are used in AE, consideration should be given into using tools with higher validity in this patient population, such as the POMS-2.