Editorial Material
Clinical Neurology
Claudio M. de Gusmao, Isabella Peixoto de Barcelos, Anna L. R. Pinto, Laura Silveira-Moriyama
Summary: Paroxysmal exercise-induced movement disorders can be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency, or mitochondrial respiratory chain disorders. In this case, a 4-year-old boy with a history of febrile seizures presented with paroxysmal dystonia triggered by exercise or occurring at rest. Further investigations revealed neuroimaging abnormalities (pallidal hyperintensities on brain MRI) and low CSF glucose, along with elevated pyruvate and lactate levels. These findings point towards pyruvate dehydrogenase deficiency, a treatable metabolic disorder with neurological manifestations.
Editorial Material
Clinical Neurology
Yoji Hoshina, Melissa A. Wright, Judith E. A. Warner, Tyler Richards, Karen L. Salzman, Stefan M. Pulst, Emily Spoth, Stacey L. Clardy
Summary: This study reports two undiagnosed patients who presented with episodic neurological symptoms initially suspected to be caused by autoimmune diseases. Through detailed family history inquiry and genetic testing, it was ultimately determined that they had ATX-FGF14, a genetic disorder.
Editorial Material
Clinical Neurology
Marta Ruiz-Lopez, Ana Moreno Estebanez, Beatriz Tijero, Tamara Fernandez, Alba Rebollo-Perez, Inigo Gabilondo, Nuria Lopez-Osle, Leticia Ceberio-Hualde, Juan Jose Zarranz, Juan Carlos Gomez-Esteban
Summary: Clinicians may encounter main challenges in dealing with patients with Wilson disease, including difficulties with clinical diagnosis, therapeutic management, management during pregnancy, and genotype-phenotype correlations.
Editorial Material
Clinical Neurology
Antonia J. Clarke, David Manser, Ronald Fleischer, Michael Fulham, Rebekah M. Ahmed
Summary: We present a case of semantic variant primary progressive aphasia as the presenting feature in a patient with Huntington disease. This case highlights the substantial overlap between the clinical presentation of Huntington disease and frontotemporal lobar degeneration syndromes, and provides commentary on the investigation of these neurodegenerative diseases.
Editorial Material
Clinical Neurology
Karlo Toljan, Ahmad Mahadeen, Moein Amin, Mary Rensel, Stephen E. Jones, Daniel Ontaneda, Amy C. Kunchok
Summary: We report three cases of acute hemorrhagic myelitis occurring within 4 weeks of SARS-CoV-2 infection. These cases highlight the rarity of this condition and its potential as a post/parainfectious complication of SARS-CoV-2 infection. Clinical recovery was poor in all cases despite immunosuppression.
Article
Clinical Neurology
Jeevi Mona Priyadharshni Selvarajan, Sridhar Epari, Arpita Sahu, Archya Dasgupta, Abhishek Chatterjee, Tejpal Gupta
Summary: Primary diffuse leptomeningeal melanocytosis (PDLM) is a rare CNS tumor that presents diagnostic and therapeutic challenges due to its overlapping features with aseptic meningitis. This case report describes a patient initially treated for viral meningitis based on MRI and CSF analysis, but later diagnosed with PDLM through meningeal biopsy. The patient underwent ventriculoperitoneal shunt and craniospinal irradiation, and remains stable on regular surveillance. Optimal management of PDLM is controversial, with the role of radiotherapy, chemotherapy, targeted therapy, and immunotherapy still being debated.
Editorial Material
Clinical Neurology
Hyo-Jung Kim, Hyun-Jae Kim, Jong-Hee Lee, Ji-Soo Kim
Summary: Vibration-induced downbeat nystagmus was observed in a patient with paraneoplastic cerebellar degeneration due to cervical cancer. The patient exhibited spontaneous upbeat nystagmus, which decreased during lateral and upward gaze. The appearance of downbeat nystagmus was associated with convergence, horizontal head shaking, and vibratory stimulation.
Editorial Material
Clinical Neurology
Manali Shah, Christopher T. Primiani, Amir Kheradmand, Kemar E. Green
Summary: This article describes a case of torsional deviation of the eyes caused by a brainstem lesion. Torsional eye movement refers to changes in the position of the eyes in the roll plane. The pattern of torsional eye deviation can help localize the lesion.
Editorial Material
Clinical Neurology
Nathan Shmuel Farkas, Rachel Zolno, Cristina M. Gaudioso, Ali Y. Mian, Soe Mar
Summary: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is implicated in a wide range of CNS encephalitis and myelitis presentations. We present a previously healthy 16-year-old girl who presented with acute onset headaches that rapidly progressed to encephalopathy and paralysis, and improved after treatment.
Editorial Material
Clinical Neurology
Elma M. Paredes-Aragon, Norah A. AlKhaldi, Jorge G. Burneo, Donald Lee, Lee C. Ang, David Steven, Maria MacDonald, Manuel Herrera-Aramburu, Seyed M. Mirsattari
Summary: Drug-resistant epilepsy is a common condition where multiple antiseizure medications fail to control seizures. Tumors are a significant cause of epilepsy in both adults and children, with specific subtypes like DNET, ganglioglioma, and low-grade astrocytoma being commonly identified. Recent advancements in tumor classification, particularly in terms of genetics, have improved our understanding of these tumors.
Editorial Material
Clinical Neurology
Audra C. Fain, Sanaya Daruvala, Neishay Ayub
Summary: Ictal asystole is a rare but serious condition associated primarily with temporal lobe epilepsy, which can lead to recurrent syncope and increased risk of sudden unexplained death. It can be diagnosed through various tests such as video-EEG and EKG, and requires a comprehensive treatment plan including optimization of medications, consideration of surgery, and cardiac pacing.
Editorial Material
Clinical Neurology
Christopher Goyne, Leena Kansal
Summary: Cobalamin C (CblC) deficiency is a rare genetic disorder that affects the metabolism of vitamin B12, leading to various clinical manifestations. Early diagnosis is crucial in preventing permanent neurological damage, as CblC deficiency is treatable. Diagnosis relies on testing metabolites such as methylmalonic acid (MMA) and homocysteine. This case emphasizes the importance of considering inborn errors of metabolism in adult patients and conducting appropriate testing when suspecting vitamin B12 dysfunction.
Article
Clinical Neurology
Ajith Cherian, K. P. Divya, Asish Vijayaraghavan, Syam Krishnan
Summary: Spinocerebellar ataxia 21 (SCA21) caused by TMEM240 disease-associated variation is characterized by a delayed acquisition of language, motor, and social skills, leading to severe cognitive impairment. This case report highlights the importance of genetic testing in patients with myoclonus dystonia (M-D) syndrome and suggests a trial of levodopa for dystonia caused by TMEM240 variation.
Editorial Material
Clinical Neurology
Aarushi Jain, Vito P. Arena, Connolly Steigerwald, Maria J. Borja, Ilya Kister, Nicolas J. Abreu
Summary: This case report highlights the unusual presentation of CSF1R-related leukoencephalopathy initially diagnosed as multiple sclerosis, emphasizing the importance of considering adult-onset neurogenetic disorders in differential diagnosis.
Editorial Material
Clinical Neurology
Charlie Weige Zhao, Shujuan Dai, Qian Wu
Summary: This report discusses a case of a previously healthy woman who developed acute-onset altered mental status after consuming undercooked meats. Despite treatment, the patient rapidly deteriorated and died, and Listeria monocytogenes infection was later confirmed. Whole-genome sequencing was used to identify the subtype of Listeria involved. The study highlights the importance of diagnostic and treatment approaches to neurolisteriosis.
Article
Clinical Neurology
James F. Howard, Richard J. Nowak, Gil Wolfe, Miriam L. Freimer, Tuan H. Vu, John L. Hinton, Michael Benatar, Petra W. Duda, James E. MacDougall, Ramin Farzaneh-Far, Henry J. Kaminski
Article
Clinical Neurology
Tarrant McPherson, Inmaculada Aban, Petra W. Duda, Ramin Farzaneh-Far, Gil Wolfe, Henry J. Kaminski, Gary Cutter, Ikjae Lee
Review
Immunology
Khaled Albazli, Henry J. Kaminski, Jr James F. Howard
FRONTIERS IN IMMUNOLOGY
(2020)
Review
Oncology
Sawsan Alabbad, Mohanad AlGaeed, Patricia Sikorski, Henry J. Kaminski
Article
Health Care Sciences & Services
Dong Dong, Marc Ka-chun Chong, Yushan Wu, Henry Kaminski, Gary Cutter, Xianhao Xu, Haifeng Li, Chongbo Zhao, Jian Yin, Siyue Yu, Jianfeng Zhu
HEALTH AND QUALITY OF LIFE OUTCOMES
(2020)
Article
Immunology
Xiangyang Zhang, Michael Ciesielski, Robert A. Fenstermaker, Henry J. Kaminski, Linda L. Kusner
JOURNAL OF IMMUNOLOGY
(2020)
Article
Psychology, Clinical
Stephen C. Bunt, Nyaz Didehbani, Christian LoBue, Mathew Stokes, Morgan Heinzelmann, Heidi Rossetti, Shane M. Miller, Paul A. Nakonezny, Kathleen Bell, Hunt Batjer, C. Munro Cullum
Summary: This study examines differences in concussion symptom reporting between adult females and males, finding that females report higher levels of symptom severity and an increased risk of developing these symptoms following a concussion.
CLINICAL NEUROPSYCHOLOGIST
(2022)
Letter
Clinical Neurology
Srikanth Muppidi, Jeffrey T. Guptill, Saiju Jacob, Yingkai Li, Maria E. Farrugia, Amanda C. Guidon, Jinny O. Tavee, Henry Kaminski, James F. Howard, Gary Cutter, Heinz Wiendi, Matthew B. Maas, Isabel Illa, Renato Mantegazza, Hiroyuki Murai, Kimiaki Utsugisawa, Richard J. Nowak
Article
Multidisciplinary Sciences
Ruoyi Jiang, Kenneth B. Hoehn, Casey S. Lee, Minh C. Pham, Robert J. Homer, Frank C. Detterbeck, Inmaculada Aban, Leslie Jacobson, Angela Vincent, Richard J. Nowak, Henry J. Kaminski, Steven H. Kleinstein, Kevin C. O'Connor
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Review
Clinical Neurology
Morgan Heinzelmann, Edward Pan
Summary: This article reviews the literature on the relationship between traumatic brain injury (TBI) and glioma formation in adults. Case reports describe glioma formation at the site of prior brain injury, while observational studies mostly show no association. However, one prospective study found a positive association. Overall, glioma formation after TBI is a rare occurrence that requires further study.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Michael Benatar, Gary Cutter, Henry J. Kaminski
Summary: The US FDA has approved drugs for the treatment of myasthenia gravis, but questions remain regarding which patients benefit the most and the relative effectiveness of these drugs.
Article
Clinical Neurology
Morgan Heinzelmann, Christine Woods, Bert B. Vargas, Mathew Stokes
Summary: Posttraumatic headache (PTH) is a common secondary headache disorder following concussion, but the underlying mechanisms and specific treatment for PTH are still poorly understood. Further research is needed to define and validate the diagnosis of PTH, understand its pathophysiology, and find more effective treatments.
SEMINARS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Antoine Regnault, Thomas Morel, Christine de la Loge, Flora Mazerolle, Henry J. Kaminski, Ali A. Habib
Summary: Myasthenia gravis (MG) is a chronic disease that affects the communication between nerves and muscles. The severity of MG can be assessed based on symptoms, with more symptoms indicating more severe disease. Muscle weakness in the eyes may represent a unique aspect of MG and requires further investigation.
NEUROLOGY AND THERAPY
(2023)
Article
Multidisciplinary Sciences
Patricia Sikorski, Yaoxiang Li, Mehar Cheema, Gil I. Wolfe, Linda L. Kusner, Inmaculada Aban, Henry J. Kaminski
Summary: The study identified that high levels of phospholipids in serum were associated with treatment response in MG patients. It also found a panel of markers including histidine, free fatty acid, gamma-cholestenol, and guanosine that were highly predictive of treatment response. Pathway analysis suggested that xenobiotic metabolism may play a major role in treatment resistance, and individual variation in prednisone metabolism could impact treatment efficacy.
Correction
Clinical Neurology
Antoine Regnault, Thomas Morel, Christine de la Loge, Flora Mazerolle, Henry J. Kaminski, Ali A. Habib
NEUROLOGY AND THERAPY
(2023)
