Search Our Scientific Publications & Authors

Ann Neurol 2022 May 26. Epub 2022 May 26.

Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and MetabERN, Barcelona, Spain.

Objective: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of predictive approaches are needed.

Methods: Longitudinal clinical and biochemical data of 25 individuals with NKH from the patient registry of International Working Group on Neurotransmitter related Disorders were studied with in silico analyses, pathogenicity scores and molecular modeling of GLDC and AMT variants. Read More

Ann Neurol 2022 May 24. Epub 2022 May 24.

MGH Neurosurgery & Center for Neurotechnology and Neurorecovery (CNTR), MGH Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

Ann Neurol 2022 May 24. Epub 2022 May 24.

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Objective: To assess whether non-invasive brain stimulation with transcranial alternating current stimulation at gamma-frequency (γ-tACS) applied over the precuneus can improve episodic memory and modulate cholinergic transmission by modulating cerebral rhythms in early Alzheimer's disease (AD).

Methods: In this randomized, double-blind, sham controlled, crossover study, 60 AD patients underwent a clinical and neurophysiological evaluation including assessment of episodic memory and cholinergic transmission pre- and post- 60 minutes treatment with γ-tACS targeting the precuneus or sham tACS. In a subset of 10 patients, EEG analysis and individualized modelling of electric field distribution were carried out. Read More

Ann Neurol 2022 May 22. Epub 2022 May 22.

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

Ann Neurol 2022 May 22. Epub 2022 May 22.

The Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

Objective: To evaluate functional and safety outcomes for endovascular thrombectomy (EVT) versus medical management (MM) in patients with large vessel occlusion (LVO) and mild neurological deficits, stratified by perfusion imaging mismatch.

Methods: Pooled cohort of patients with NIHSS<6 and ICA, M1, M2 occlusions from EXTEND-IA, EXTEND-IA-TNK I/II RCTs and prospective data from 15 EVT centers from 10/2010 to 4/2020. RAPID software estimated ischemic core and mismatch. Read More

Ann Neurol 2022 May 22. Epub 2022 May 22.

Johns Hopkins University, Baltimore, MD.

Ann Neurol 2022 May 22. Epub 2022 May 22.

Hôpital du Valais, Sion, Switzerland.

Objective: To examine rates of intravenous thrombolysis (IVT), mechanical thrombectomy (MT), door-to-needle (DTN) time, door-to-puncture(DTP) time, and functional outcome between patients with admission MRI versus CT.

Methods: Observational cohort study of consecutive patients using a target trial design within the nationwide Swiss-Stroke-Registry from 01/2014 to 08/2020. Exclusion criteria included MRI contraindications, transferred patients, and unstable or frail patients. Read More

Ann Neurol 2022 May 22. Epub 2022 May 22.

Laboratory of Neurogenetics, Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Objective: The aim of the current study is to understand why some individuals avoid developing Parkinson's disease (PD) in spite of being at relatively high genetic risk, using the largest datasets of individual-level genetic data available.

Methods: We calculated polygenic risk score to identify controls and matched PD cases with the highest burden of genetic risk for PD in the discovery cohort (IPDGC, 7,204 PD cases and 9,412 controls) and validation cohorts (COURAGE-PD, 8,968 cases and 7,598 controls; UKBB, 2,639 PD cases and 14,301 controls; AMP-PD, 2,248 cases and 2,817 controls). A genome-wide association study meta-analysis was performed on these individuals to understand genetic variation associated with resistance to disease. Read More

Ann Neurol 2022 May 21. Epub 2022 May 21.

Institute for Regenerative Medicine, University of Zurich, Zurich, Switzerland.

Objective: Evidence on associations of lifestyle factors with Alzheimer's pathology and cognition are ambiguous, potentially because they rarely addressed interrelationships of factors and sex effects. While considering these aspects, we examined the relationships of lifestyle factors with brain amyloid burden and cognition.

Methods: We studied 178 cognitively normal individuals (women, 49%; 65. Read More

Ann Neurol 2022 May 21. Epub 2022 May 21.

Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China.

Objective: Accumulation of α-synuclein (α-syn) in neurons is a prominent feature of Parkinson's disease (PD). Recently, researchers have considered that extracellular vesicles (EVs) may play an important role in protein exportation and propagation, and α-syn-containing EVs derived from the central nervous system (CNS) have been detected in peripheral blood. However, mechanistic insights into CNS-derived EVs have not been well-described. Read More

Ann Neurol 2022 May 21. Epub 2022 May 21.

Department of Neurosurgery, Mayo Clinic, Jacksonville, FL, USA.

Ann Neurol 2022 May 20. Epub 2022 May 20.

Department of Laboratory Medicine, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

Objective: We performed a population-based study on inclusion body myositis with the primary aims to define the prevalence, survival rate and incidence and to investigate the symptom profiles associated with disease duration and sex over a 33-year period.

Methods: Patients diagnosed between 1985 and 2017 in Region Västra Götaland, Sweden were identified according to the European Neuromuscular Centre diagnostic criteria from 2011.

Results: We identified 128 patients, 89 men and 39 women with the strict clinico-pathologically definition of inclusion body myositis. Read More

Ann Neurol 2022 May 20. Epub 2022 May 20.

Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

Objective: Astrocytes outline the perivascular space (PVS) and regulate fluids exchange through the aquaporin-4 water channel. Since neuromyelitis optica is an autoimmune astrocytopathy targeting aquaporin-4, we hypothesize that it could be associatied with PVS abnormalities.

Methods: Thirty-four patients and 46 age- and sex-matched healthy controls from two independent cohorts (exploratory- and validation-dataset) underwent a standardized 3. Read More

Ann Neurol 2022 May 20. Epub 2022 May 20.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Objective: Using a multi-cohort, Discovery-Replication-Validation design, we sought new plasma biomarkers that predict which PD individuals will experience cognitive decline.

Methods: In 108 Discovery Cohort PD individuals and 83 Replication Cohort PD individuals, we measured 940 plasma proteins on an aptamer-based platform. Using proteins associating with subsequent cognitive decline in both cohorts, we trained a logistic regression model to predict which PD patients showed fast (>=1 point drop/year on Montreal Cognitive Assessment (MoCA)) vs. Read More

Ann Neurol 2022 May 19. Epub 2022 May 19.

Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000, Versailles, France.

Objectives: Duchenne muscular dystrophy is associated with various degrees of cognitive impairment and behavioral disturbances. Emotional and memory deficits also constitute reliable outcome measures to assess efficacy of treatments in the mdx mouse lacking the muscle and neuronal full-length dystrophins. The present study aims at evaluating whether these deficits could be alleviated by the restoration of brain dystrophin. Read More

Ann Neurol 2022 May 14. Epub 2022 May 14.

National Consultant Laboratory for Electron Microscopy of Infectious Pathogens, Centre for Biological Threats and Special Pathogens 4 (ZBS 4), Robert Koch Institute, Berlin, Germany.

Ann Neurol 2022 06 28;91(6):737-739. Epub 2022 Apr 28.

Barrow Neurological Institute, Phoenix, AZ.

Ann Neurol 2022 Apr 26. Epub 2022 Apr 26.

Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

Objective: Women have a higher lifetime risk of Alzheimer's disease (AD) than men. Among cognitively normal (CN) older adults, women exhibit elevated tau positron emission tomography (PET) signal compared with men. We explored whether menopause exacerbates sex differences in tau deposition in middle-aged adults. Read More

Ann Neurol 2022 Apr 26. Epub 2022 Apr 26.

Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

Objective: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia (HSP) is associated with over 80 genes with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (MIM# 615683). Read More

Ann Neurol 2022 Apr 25. Epub 2022 Apr 25.

The Cain Foundation Laboratories, the Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.

Objective: Infantile spasms are associated with a wide variety of clinical conditions, including perinatal brain injuries. We have created a model in which prolonged infusion of tetrodotoxin (TTX) into the neocortex, beginning in infancy, produces a localized lesion and reproduces the behavioral spasms, electroencephalogram (EEG) abnormalities, and drug responsiveness seen clinically. Here, we undertook experiments to explore the possibility that the growth factor IGF-1 plays a role in generating epileptic spasms. Read More

Ann Neurol 2022 Apr 25. Epub 2022 Apr 25.

Chan Zuckerberg Biohub, Department of Biochemistry and Biophysics, University of California, San Francisco, CA, USA.

Objective: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co-occurrence of neuroblastic tumors have fueled suspicion of an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Our objective is to determine if an autoimmune paraneoplastic etiology underlies ROHHAD. Read More

Ann Neurol 2022 Apr 22. Epub 2022 Apr 22.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Ann Neurol 2022 Apr 20. Epub 2022 Apr 20.

Peggy and Gary Edwards ALS Laboratory, Department of Neurology, Houston Methodist Neurological Institute, Houston Methodist Research Institute, Houston Methodist Hospital, Houston, Texas, USA.

Oxidative stress (OS) induces inflammation, which in turn exacerbates OS and the expression of acute phase proteins (APPs). Regulatory T lymphocyte (Treg) therapy was assessed for suppression of OS and APP responses in longitudinal serum samples from subjects with amyotrophic lateral sclerosis (ALS) enrolled in a phase I clinical trial. The first round of Treg therapy suppressed levels of oxidized low-density lipoprotein (ox-LDL). Read More

Ann Neurol 2022 Apr 19. Epub 2022 Apr 19.

Department of Neurosurgery, University of Minnesota, Minneapolis, MN.

We sought to determine whether racial and socioeconomic disparities in the utilization of deep brain stimulation (DBS) for Parkinson's disease (PD) have improved over time. We examined DBS utilization and analyzed factors associated with placement of DBS. The odds of DBS placement increased across the study period, whereas White patients with PD were 5 times more likely than Black patients to undergo DBS. Read More

Ann Neurol 2022 Apr 19. Epub 2022 Apr 19.

Department of Neurology, Center for Global Health, School of Medicine, Technical University of Munich, Munich, Germany.

Nodding syndrome (NS) is a poorly understood form of childhood-onset epilepsy that is characterized by the pathognomonic ictal phenomenon of repetitive vertical head drops. To evaluate the underlying ictal neurophysiology, ictal EEG features were evaluated in nine participants with confirmed NS from South Sudan, Tanzania, and Uganda and ictal presence of high frequency gamma oscillations on scalp EEG were assessed. Ictal EEG during the head nodding episode predominantly showed generalized slow waves or sharp-and-slow wave complexes followed by electrodecrement. Read More

Ann Neurol 2022 Apr 19. Epub 2022 Apr 19.

Department of Neurology, Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou, China.

Objective: We aimed to investigate the effectiveness of endovascular therapy (EVT) versus intravenous thrombolysis (IVT) in patients with basilar artery occlusion (BAO), based on the information of advanced imaging.

Methods: We analyzed data of stroke patients with radiologically confirmed BAO within 24 hours. BAO subjects were categorized into "top-of-the-basilar" syndrome (TOBS) and other types. Read More

Ann Neurol 2022 Apr 17. Epub 2022 Apr 17.

Department of Neurology, New York University Grossman School of Medicine, New York, NY, USA.

Ann Neurol 2022 Apr 15. Epub 2022 Apr 15.

Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Vic, Australia.

Objective: Deep brain stimulation (DBS) can reduce seizures in Lennox-Gastaut syndrome (LGS). However, little is known about the optimal target and whether efficacy depends on connectivity of the stimulation site. Using outcome data from the ESTEL trial, we aimed to determine the optimal target and connectivity for DBS in LGS. Read More

Ann Neurol 2022 Apr 15. Epub 2022 Apr 15.

Harvard Medical School, Boston, MA, USA.

Objective: The objective of this study was to identify predictors in common between different clinical and magnetic resonance imaging (MRI) outcomes in multiple sclerosis (MS) by comparing predictive models.

Methods: We analyzed 704 patients from our center seen at MS onset, measuring 37 baseline demographic, clinical, treatment, and MRI predictors, and 10-year outcomes. Our primary aim was identifying predictors in common among clinical outcomes: aggressive MS, benign MS, and secondary-progressive (SP)MS. Read More

Ann Neurol 2022 Apr 15. Epub 2022 Apr 15.

Neurology & Neurophysiology Center, Vienna, Austria.