Neurology

Victoria Taylor-Bateman, Dipender Gill, Marios K. Georgakis, Rainer Malik, Patricia Munroe, Matthew Traylor, on behalf of the International Consortium of Blood Pressure (ICBP)

doi : 10.1212/WNL.0000000000013120

vol. 98 no. 4 e343-e351

Cardiovascular risk factors have been implicated in the etiology of cerebral small vessel disease (CSVD); however, whether the associations are causal remains unclear in part due to the susceptibility of observational studies to reverse causation and confounding. Here, we use mendelian randomization (MR) to determine which cardiovascular risk factors are likely to be involved in the etiology of CSVD.

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Cerebrovascular Collateral Integrity in Pediatric Large Vessel Occlusion

Sarah Lee, Bin Jiang, Max Wintermark, Michael Mlynash, Soren Christensen, Ronald Sträter, Gabriel Broocks, Astrid Grams, Franziska Dorn, Omid Nikoubashman, Daniel Kaiser, Andrea Morotti, Ulf Jensen-Kondering, Johannes Trenkler, Markus Möhlenbruch, Jens Fiehler, Moritz Wildgruber, André Kemmling, Marios Psychogios, Peter B. Sporns, on behalf of Save ChildS Investigators

doi : 10.1212/WNL.0000000000013081

vol. 98 no. 4 e352-e363

Robust cerebrovascular collaterals in adult patients with large vessel occlusion stroke have been associated with longer treatment windows, better recanalization rates, and improved outcomes, but the role of collaterals in pediatric stroke is not known. The primary aim was to determine whether favorable collaterals correlated with better radiographic and clinical outcomes in children with ischemic stroke who underwent thrombectomy.

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Microstructural Periventricular White Matter Injury in Post-hemorrhagic Ventricular Dilatation

Albert M. Isaacs, Jeffrey J. Neil, James P. McAllister, Sonika Dahiya, Leandro Castaneyra-Ruiz, Harri Merisaari, Haley E. Botteron, Dimitrios Alexopoulos, Ajit George, Peng Sun, Diego M. Morales, Joshua S. Shimony, Jennifer Strahle, Yan Yan, Sheng-Kwei Song, David D. Limbrick, Christopher D. Smyser

doi : 10.1212/WNL.0000000000013080

vol. 98 no. 4 e364-e375

The neurologic deficits of neonatal post-hemorrhagic hydrocephalus (PHH) have been linked to periventricular white matter injury. To improve understanding of PHH-related injury, diffusion basis spectrum imaging (DBSI) was applied in neonates, modeling axonal and myelin integrity, fiber density, and extrafiber pathologies. Objectives included characterizing DBSI measures in periventricular tracts, associating measures with ventricular size, and examining MRI findings in the context of postmortem white matter histology from similar cases.

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Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis

Richard J. Nowak, Christopher S. Coffey, Jonathan M. Goldstein, Mazen M. Dimachkie, Michael Benatar, John T. Kissel, Gil I. Wolfe, Ted M. Burns, Miriam L. Freimer, Sharon Nations, Volkan Granit, A. Gordon Smith, David P. Richman, Emma Ciafaloni, Muhammad T. Al-Lozi, Laura Ann Sams, Dianna Quan, Eroboghene Ubogu, Brenda Pearson, Aditi Sharma, Jon W. Yankey, Liz Uribe, Michael Shy, Anthony A. Amato, Robin Conwit, Kevin C. O'Connor, David A. Hafler, Merit E. Cudkowicz, Richard J. Barohn, on behalf of the NeuroNEXT NN103 BeatMG Study Team

doi : 10.1212/WNL.0000000000013121

vol. 98 no. 4 e376-e389

To determine whether rituximab is safe and potentially beneficial, warranting further investigation in an efficacy trial for acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR-Ab+ gMG).

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Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy

Marianela Schiava, Rachel Amos, Henriette VanRuiten, Michael P. McDermott, Williams B. Martens, Stephanie Gregory, Anna Mayhew, Elaine McColl, Rabi Tawil, Tracey Willis, Kate Bushby, Robert C. Griggs, Michela Guglieri, on behalf of the FOR-DMD Investigators of the Muscle Study Group

doi : 10.1212/WNL.0000000000013122

vol. 98 no. 4 e390-e401

Duchenne muscular dystrophy (DMD) is a pediatric neuromuscular disorder caused by mutations in the dystrophin gene. Genotype-phenotype associations have been examined in glucocorticoid-treated boys, but there are few data on the young glucocorticoid-naive DMD population. A sample of young glucocorticoid-naive DMD boys is described, and genotype-phenotype associations are investigated.

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Amyotrophic Lateral Sclerosis–Frontotemporal Dementia

Camilla Cividini, Silvia Basaia, Edoardo G. Spinelli, Elisa Canu, Veronica Castelnovo, Nilo Riva, Giordano Cecchetti, Francesca Caso, Giuseppe Magnani, Andrea Falini, Massimo Filippi, Federica Agosta

doi : 10.1212/WNL.0000000000013123

vol. 98 no. 4 e402-e415

A significant overlap between amyotrophic lateral sclerosis (ALS) and behavioral variant of frontotemporal dementia (bvFTD) has been observed at clinical, genetic, and pathologic levels. Within this continuum of presentations, the presence of mild cognitive or behavioral symptoms in patients with ALS has been consistently reported, although it is unclear whether this is to be considered a distinct phenotype or rather a natural evolution of ALS. Here, we used mathematical modeling of MRI connectomic data to decipher common and divergent neural correlates across the ALS–frontotemporal dementia (FTD) spectrum.

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Association of Air Pollution and Physical Activity With Brain Volumes

Melissa A. Furlong, Gene E. Alexander, Yann C. Klimentidis, David A. Raichlen

doi : 10.1212/WNL.0000000000013031

vol. 98 no. 4 e416-e426

In high-pollution areas, physical activity may have a paradoxical effect on brain health by increasing particulate deposition in the lungs. We examined whether physical activity modifies associations of air pollution (AP) with brain volumes in an epidemiologic framework.

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Adherence to Antiseizure vs Other Medications Among US Medicare Beneficiaries With and Without Epilepsy

Samuel W. Terman, Wesley T. Kerr, Carole E. Aubert, Chloe E. Hill, Zachary A. Marcum, James F. Burke

doi : 10.1212/WNL.0000000000013119

vol. 98 no. 4 e427-e436

The objectives of this study were to compare adherence to antiseizure medications (ASMs) vs non-ASMs among individuals with epilepsy, to assess the degree to which variation in adherence is due to differences between individuals vs between medication classes among individuals with epilepsy, and to compare adherence in individuals with vs without epilepsy.

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Effects of Fragmentation and the Case for Greater Cohesion in Neurologic Care Delivery

Mary A. O'Neal, Nassim Zecavati, Melissa Yu, Rebecca Spain, Scott M. Friedenberg, Nada El Husseini, Diego R. Torres-Russotto, Briseida Feliciano, Roderick Spears, Christine Baca

doi : 10.1212/WNL.0000000000013079

vol. 98 no. 4 146-153

To define fragmentation in neurologic care delivery, explain the positive and negative drivers in neurologic practice that contribute to fragmentation, illustrate situations that increase fragmentation risk, emphasize the costs and impact on both patients and providers, and propose solutions that allow for more cohesive care.

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Decisions With Patients and Families Regarding Aducanumab in Alzheimer Disease, With Recommendations for Consent

Winston Chiong, Benjamin David Tolchin, Richard J. Bonnie, Katharina M. Busl, Salvador Cruz-Flores, Leon G. Epstein, Ericka P. Greene, Judy Illes, Matthew Kirschen, Daniel G. Larriviere, Sneha Mantri, Michael A. Rubin, Barney J. Stern, Lynne P. Taylor, on behalf of the Ethics, Law, and Humanities Committee (a joint committee of the AAN, ANA, and CNS)

doi : 10.1212/WNL.0000000000013053

vol. 98 no. 4 154-159

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Resident & Fellow Rounds: January 2022

Roy E. Strowd, Whitley Aamodt

doi : 10.1212/WNL.0000000000013164

vol. 98 no. 4 160-162

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Clinical Reasoning: A 31-Year-Old Man With Sequential Vision Loss

Blake Fortes, John J. Chen, M. Tariq Bhatti

doi : 10.1212/WNL.0000000000013084

vol. 98 no. 4 163-169

A 31-year-old healthy White man experienced painless sequential vision loss. Brain imaging and laboratory investigations for infectious, inflammatory, and nutritional conditions, in addition to targeted genetic testing for Leber hereditary optic neuropathy (LHON), were all normal or negative. Despite systemic corticosteroid therapy and plasma exchange, vision continued to worsen. Eventually, mitochondrial whole-genome sequencing was performed, which demonstrated a mutation at the 13513G>A position confirming the diagnosis of LHON. The three primary mutations (11778G>A, 14484T>C, and 3460G>A) account for 90% of LHON cases; therefore, it is important to consider whole-genome mitochondrial sequencing in cases with a high index of clinical suspicion and negative primary mutation screening testing.

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Future of Neurology & Technology: Stereoelectroencephalography in Presurgical Epilepsy Evaluation

Guillermo Delgado-Garcia, Birgit Frauscher

doi : 10.1212/WNL.0000000000013088

vol. 98 no. 4 e437-e440

Stereoelectroencephalography (SEEG) is not only a sophisticated and highly technological investigation but a new and better way to conceptualize the spatial and temporal dynamics of epileptic activity. The first intracranial investigations with SEEG were performed in France in the mid-twentieth century; however, its use in North America is much more recent. Given its significantly lower risk of complications and its ability to sample both superficial and deep structures and both hemispheres simultaneously, SEEG has become the preferred method to conduct intracranial EEG monitoring in most comprehensive epilepsy centers in North America. SEEG is an invasive neurophysiologic methodology used for advanced presurgical workup in the 20% of drug-resistant patients with more complex focal epilepsy in whom noninvasive investigations do not allow to decide on surgical candidacy. SEEG uses stereotactically implanted depth electrodes to map the origin and propagation of epileptic seizures by creating a 3-dimensional representation of the abnormal electrical activity in the brain. SEEG analysis takes into account the background, interictal, and ictal activity, as well as the results of cortical electrical stimulation procedures, to reliably delineate the epileptogenic network. By means of a clinical vignette, this article will walk general neurologists, but especially neurology trainees through the immense potential of this methodology. In summary, SEEG enables to accurately identify the epileptogenic zone in patients with drug-resistant focal epilepsy who otherwise would be not amenable to surgical treatment. In this patient population, SEEG is the best way to improve seizure control and achieve seizure freedom.

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