11,252 results match your criteria Annals of neurology[Journal]


Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.

Ann Neurol 2019 Apr 20. Epub 2019 Apr 20.

Biomedical Science and Engineering Interdisciplinary Program, KAIST, Daejeon, Korea.

Objective: JBTS17 is a major gene mutated in ciliopathies such as Joubert syndrome and oral-facial-digital syndrome type VI. Most patients with loss of function mutations in JBTS17 exhibit cerebellar vermis hypoplasia and brain stem malformation. However, some patients with JBTS17 mutations show microcephaly and abnormal gyration. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25491
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http://dx.doi.org/10.1002/ana.25491DOI Listing
April 2019
1 Read

Meta-analyses identify differentially expressed microRNAs in Parkinson's disease.

Ann Neurol 2019 Apr 16. Epub 2019 Apr 16.

Genetic and Molecular Epidemiology Group, Lübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics & Cardiogenetics, University of Lübeck, Lübeck, Germany.

Objective: MicroRNA-mediated (dys)regulation of gene expression has been implicated in Parkinson's disease (PD), although results of microRNA expression studies remain inconclusive. We aimed to identify microRNAs that show consistent differential expression across all published expression studies in PD.

Methods: We performed a systematic literature search on microRNA expression studies in PD and extracted data from eligible publications. Read More

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http://dx.doi.org/10.1002/ana.25490DOI Listing
April 2019
1 Read

DOAC vs. VKA after recent ischemic stroke in patients with atrial fibrillation.

Ann Neurol 2019 Apr 13. Epub 2019 Apr 13.

Neurology and Stroke Center, University Hospital Basel and University of Basel, Switzerland.

Objective: We compared outcomes after treatment with direct oral anticoagulants (DOAC) and Vitamin-K antagonists (VKA) in patients with atrial fibrillation (AF) and a recent cerebral ischemia.

Methods: We conducted an individual patient data analysis of 7 prospective cohort studies. We included patients with AF and a recent cerebral ischemia (<3 months before starting oral anticoagulation) and a minimum follow-up of 3 months. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25489
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http://dx.doi.org/10.1002/ana.25489DOI Listing
April 2019
1 Read

Neurology Bedside Rounding: If Osler Were a Neurologist Now.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Rd, Boston, MA 02115, United States.

Inpatient rounding as a team is an essential part of patient care at academic hospitals and remains a tradition in the field of medicine since its introduction in the 17 century. The style of rounding, however, has shifted from the bedside to the hallway and conference room. The use of the common styles of rounding has not been assessed within neurology and best practices are unclear. Read More

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http://dx.doi.org/10.1002/ana.25487DOI Listing

A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Objective: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT) repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP. Read More

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http://dx.doi.org/10.1002/ana.25488DOI Listing
April 2019
1 Read

TMEM106B Effect on Cognition in Parkinson's Disease and Frontotemporal Dementia.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

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

Objective: Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD. The objective of this study is to evaluate the effect of TMEM106B genotype on cognitive decline across multiple neurogenerative diseases. Read More

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http://dx.doi.org/10.1002/ana.25486DOI Listing
April 2019
1 Read

Flow-Diversion for Treatment of Intracranial Aneurysms: Mechanism & Implications.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Neurosurgical Service, Beth Israel Deaconess Medical Center, Harvard Medical School.

Flow diverters are new-generation stents that have recently garnered a large amount of interest for use in treatment of intracranial aneurysms. Flow diverters reduce blood flow into the aneurysm, with redirection along the path of the parent vessel. Flow stagnation into the aneurysm and well as neck coverage with subsequent endothelialization are the important synergistic mechanisms by which the therapy acts. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25484
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April 2019
2 Reads

Retraction.

Authors:

Ann Neurol 2019 Apr 12;85(4):E1. Epub 2019 Mar 12.

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http://dx.doi.org/10.1002/ana.25454DOI Listing

Schwann Cell Transcript Biomarkers for Hereditary Neuropathy Skin Biopsies.

Ann Neurol 2019 Apr 4. Epub 2019 Apr 4.

Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

Objective: Charcot-Marie-Tooth disease (CMT) is most commonly caused by duplication of a chromosomal segment surrounding Peripheral Myelin Protein 22, or PMP22 gene, which is classified as CMT1A. Several candidate therapies reduce Pmp22 mRNA levels in CMT1A rodent models, but development of biomarkers for clinical trials in CMT1A is a challenge given its slow progression and the difficulty in obtaining nerve samples. Quantitative PCR measurements of PMP22 mRNA in dermal nerves were performed using skin biopsies in human clinical trials for CMT1A, but this approach did not show increased PMP22 mRNA in CMT1A patients compared to controls. Read More

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http://dx.doi.org/10.1002/ana.25480DOI Listing
April 2019
3 Reads

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Ann Neurol 2019 Apr 3. Epub 2019 Apr 3.

Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

JIP3, encoded by MAPK8IP3, is an adaptor protein of the kinesin-1 complex and essential for axonal transport in neurons. However, an association between MAPK8IP3 variants and human disease has not been established. We identified five individuals from four families with recurrent de novo variants c. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25481
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http://dx.doi.org/10.1002/ana.25481DOI Listing
April 2019
3 Reads

Women in medical school leadership positions: Implications for research.

Authors:
Nina F Schor

Ann Neurol 2019 Apr 2. Epub 2019 Apr 2.

University of Rochester School of Medicine and Dentistry, Rochester, NY.

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http://dx.doi.org/10.1002/ana.25478DOI Listing

Activation of nicotinamide adenine dinucleotide phosphate oxidase is the primary trigger of epileptic seizures in rodent models.

Ann Neurol 2019 Apr 2. Epub 2019 Apr 2.

Aix-Marseille University, National Institute of Health and Medical Research, Institute of Neuroscience Systems, Mixed Unit of Research 1106, Marseille, France.

Objective: Despite decades of epilepsy research, 30% of focal epilepsies remain resistant to antiseizure drugs, with effective drug development impeded by lack of understanding on how seizures are initiated. Here, we report the mechanism of seizure onset relevant to most seizures that are characteristic of focal epilepsies.

Methods: Electric and metabolic network parameters were measured using several seizure models in mouse hippocampal slices and acutely induced seizures in rats in vivo to determine metabolic events occurring at seizure onset. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25474
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http://dx.doi.org/10.1002/ana.25474DOI Listing
April 2019
3 Reads

Deep brain stimulation: Connectivity profile for bradykinesia alleviation.

Ann Neurol 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurosurgery, Medical Center, University of Regensburg, Regensburg, Germany.

Objective: Subthalamic deep brain stimulation may alleviate bradykinesia in Parkinson patients. Research suggests that this stimulation effect may be mediated by brain networks like the cortico-cerebellar loop. This study investigated the connectivity between stimulation sites and cortical and subcortical structures to identify connections for effective stimulation. Read More

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http://dx.doi.org/10.1002/ana.25475DOI Listing
April 2019
3 Reads

Penumbra detection in acute stroke with perfusion MRI: Validation with 15O-PET.

Ann Neurol 2019 Apr 1. Epub 2019 Apr 1.

Max-Planck-Institute for Neurological Research, Cologne, Germany.

Objective: Accurate identification of the ischemic penumbra, the therapeutic target in acute clinical stroke, is of critical importance to identify patients who might benefit from reperfusion therapies (e.g. thrombectomy) beyond the established time windows. Read More

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http://dx.doi.org/10.1002/ana.25479DOI Listing
April 2019
1 Read

Longitudinal Course of Vasomotor Symptoms in Perimenopausal Migraineurs.

Ann Neurol 2019 Apr 2. Epub 2019 Apr 2.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

Objective: To examine the longitudinal course of vasomotor symptoms (VMS) in women with a history of migraine, in comparison to women without a history of migraine disease.

Methods: The study sample consisted of 467 women with a self-reported prior migraine diagnosis and 2,466 women without prior migraine diagnosis who were assessed longitudinally during menopausal transition as part of the Study of Women's Health Across the Nation. Linear mixed regression models with backward elimination were used to evaluate longitudinal associations between VMS and migraine while adjusting for baseline and time-varying demographic, socioeconomic, psychological, and reproductive factors. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25476
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http://dx.doi.org/10.1002/ana.25476DOI Listing
April 2019
4 Reads

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.

Ann Neurol 2019 Apr 1. Epub 2019 Apr 1.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early-onset developmental and epileptic encephalopathy via an unclear mechanism. We demonstrate that all three variants implicated in this condition localize to the trimerization domain of SLC1A2, and that the Leu85Pro variant acts via a dominant negative mechanism to reduce, but not eliminate, wild-type SLC1A2 protein localization and function. Read More

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http://dx.doi.org/10.1002/ana.25477DOI Listing
April 2019
1 Read

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Ann Neurol 2019 Mar 22. Epub 2019 Mar 22.

Folkhälsan Research Center, Helsinki, Finland.

Objective: To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause of this new muscular dystrophy.

Methods: We studied 4 families (3 from Spain and 1 from Sweden) suffering from an autosomal dominant distal myopathy. Affected members showed adult onset asymmetric distal muscle weakness with initial involvement of ankle dorsiflexion later progressing also to proximal limb muscles. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25470
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http://dx.doi.org/10.1002/ana.25470DOI Listing
March 2019
5 Reads

CSI: Multiple sclerosis. Tracing optic nerve involvement by standardized optical coherence tomography.

Ann Neurol 2019 May 10;85(5):615-617. Epub 2019 Apr 10.

Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1002/ana.25471DOI Listing

Slow-wave sleep and motor progression in Parkinson disease.

Ann Neurol 2019 May 27;85(5):765-770. Epub 2019 Mar 27.

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Growing evidence from Alzheimer disease supports a potentially beneficial role of slow-wave sleep in neurodegeneration. However, the importance of slow-wave sleep in Parkinson disease is unknown. In 129 patients with Parkinson disease, we retrospectively tested whether sleep slow waves, objectively quantified with polysomnography, relate to longitudinal changes in Unified Parkinson's Disease Rating Scale motor scores. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25459
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http://dx.doi.org/10.1002/ana.25459DOI Listing
May 2019
7 Reads

Smoking is a cause of ALS. High LDL-cholesterol levels? Unsure.

Authors:
Carmel Armon

Ann Neurol 2019 Mar 18. Epub 2019 Mar 18.

Tel Aviv University Sackler School of Medicine and Shamir (Assaf Harofeh) Medical Center, Israel.

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http://dx.doi.org/10.1002/ana.25469DOI Listing

Smoking is a cause of amyotrophic lateral sclerosis. High low-density lipoprotein cholesterol levels? Unsure.

Authors:
Carmel Armon

Ann Neurol 2019 Apr;85(4):465-469

Tel Aviv University Sackler School of Medicine, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/ana.25468DOI Listing

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Ann Neurol 2019 May 22;85(5):740-751. Epub 2019 Mar 22.

Genetic Medicine Department and Pediatric Institute of Rare Diseases, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.

Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Read More

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http://dx.doi.org/10.1002/ana.25457DOI Listing
May 2019
6 Reads

Association between perihematomal cerebral blood volume and intracerebral hemorrhage expansion: A computed tomography perfusion study.

Ann Neurol 2019 Mar 12. Epub 2019 Mar 12.

Neuroradiology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

We investigated whether computed tomography (CT) perfusion can identify intracerebral hemorrhage patients at high risk of hematoma growth (HG). A total of 155 subjects underwent CT perfusion on admission. Variables associated with log-transformed absolute HG were explored with multivariable linear regression. Read More

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http://dx.doi.org/10.1002/ana.25466DOI Listing

Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.

Ann Neurol 2019 May 2;85(5):644-652. Epub 2019 Apr 2.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Objective: Children with aromatic l-amino acid decarboxylase (AADC) deficiency suffer from severe motor dysfunction. Restoration of dopamine levels in the putamen by gene therapy has led to significant improvement in motor function. This study explored brain structure changes in patients. Read More

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http://dx.doi.org/10.1002/ana.25467DOI Listing

Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat.

Ann Neurol 2019 May;85(5):681-690

Department of Neurology.

Objective: Degenerative cerebellar ataxias (DCAs) affect up to 1 in 5,000 people worldwide, leading to incoordination, tremor, and falls. Loss of Purkinje cells, nearly universal across DCAs, dysregulates the dentatothalamocortical network. To address the paucity of treatment strategies, we developed an electrical stimulation-based therapy for DCAs targeting the dorsal dentate nucleus. Read More

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http://doi.wiley.com/10.1002/ana.25464
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http://dx.doi.org/10.1002/ana.25464DOI Listing
May 2019
3 Reads

Divergent patterns of TDP-43 and tau pathologies in primary progressive aphasia.

Ann Neurol 2019 May 28;85(5):630-643. Epub 2019 Mar 28.

Penn Frontotemporal Degeneration Center, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Objective: To measure postmortem burden of frontotemporal lobar degeneration (FTLD) with TDP-43 (FTLD-TDP) or tau (FTLD-Tau) proteinopathy across hemispheres in primary progressive aphasia (PPA) using digital histopathology and to identify clinicopathological correlates of these distinct proteinopathies.

Methods: In an autopsy cohort of PPA (FTLD-TDP = 13, FTLD-Tau = 14), we analyzed laterality and regional distribution of postmortem pathology, quantified using a validated digital histopathological approach, in available brain tissue from up to 8 cortical regions bilaterally. We related digital pathology to antemortem structural neuroimaging and specific clinical language features. Read More

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http://dx.doi.org/10.1002/ana.25465DOI Listing
May 2019
13 Reads

Silent progression in disease activity-free relapsing multiple sclerosis.

Ann Neurol 2019 May 30;85(5):653-666. Epub 2019 Mar 30.

UCSF Weill Institute for Neurosciences, Department of Neurology, University of California, San Francisco, San Francisco, CA.

Objective: Rates of worsening and evolution to secondary progressive multiple sclerosis (MS) may be substantially lower in actively treated patients compared to natural history studies from the pretreatment era. Nonetheless, in our recently reported prospective cohort, more than half of patients with relapsing MS accumulated significant new disability by the 10th year of follow-up. Notably, "no evidence of disease activity" at 2 years did not predict long-term stability. Read More

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http://doi.wiley.com/10.1002/ana.25463
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http://dx.doi.org/10.1002/ana.25463DOI Listing
May 2019
18 Reads
9.977 Impact Factor

Optimal intereye difference thresholds by optical coherence tomography in multiple sclerosis: An international study.

Ann Neurol 2019 May 10;85(5):618-629. Epub 2019 Apr 10.

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

Objective: To determine the optimal thresholds for intereye differences in retinal nerve fiber and ganglion cell + inner plexiform layer thicknesses for identifying unilateral optic nerve lesions in multiple sclerosis. Current international diagnostic criteria for multiple sclerosis do not include the optic nerve as a lesion site despite frequent involvement. Optical coherence tomography detects retinal thinning associated with optic nerve lesions. Read More

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http://doi.wiley.com/10.1002/ana.25462
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http://dx.doi.org/10.1002/ana.25462DOI Listing
May 2019
6 Reads
9.977 Impact Factor

The "Central Vein Sign" in inflammatory demyelination: The role of fibrillar collagen type I.

Ann Neurol 2019 Mar 7. Epub 2019 Mar 7.

Translational Neuroradiology Section, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD.

Accumulating evidence corroborates the role of the "central vein sign" in the radiological diagnosis of multiple sclerosis (MS). Here, we report human magnetic resonance imaging (MRI) and corresponding pathological data that inflammation-dependent intracerebral remodeling of the vessel wall is directly associated with the prominence of intralesional veins on susceptibility-based MRI. In adult marmosets with experimental autoimmune encephalomyelitis, vessel-wall fibrosis was detected early in the demyelinating process, even in lesions <2 weeks old, though fibrosis was more evident after 6 weeks. Read More

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http://dx.doi.org/10.1002/ana.25461DOI Listing
March 2019
6 Reads

Plasminogen activator inhibitor-1 augments damage by impairing fibrinolysis after traumatic brain injury.

Ann Neurol 2019 May 30;85(5):667-680. Epub 2019 Mar 30.

Department of Anesthesiology, University Medical Center of Johannes-Gutenberg-University Mainz, Mainz, Germany.

Objective: Plasminogen activator inhibitor-1 (PAI-1) is the key endogenous inhibitor of fibrinolysis, and enhances clot formation after injury. In traumatic brain injury, dysregulation of fibrinolysis may lead to sustained microthrombosis and accelerated lesion expansion. In the present study, we hypothesized that PAI-1 mediates post-traumatic malfunction of coagulation, with inhibition or genetic depletion of PAI-1 attenuating clot formation and lesion expansion after brain trauma. Read More

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http://dx.doi.org/10.1002/ana.25458DOI Listing

N-methyl-D-aspartate receptor dysfunction by unmutated human antibodies against the NR1 subunit.

Ann Neurol 2019 May 2;85(5):771-776. Epub 2019 Apr 2.

German Center for Neurodegenerative Diseases (DZNE) Berlin, Germany.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common autoimmune encephalitis related to autoantibody-mediated synaptic dysfunction. Cerebrospinal fluid-derived human monoclonal NR1 autoantibodies showed low numbers of somatic hypermutations or were unmutated. These unexpected germline-configured antibodies showed weaker binding to the NMDAR than matured antibodies from the same patient. Read More

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http://dx.doi.org/10.1002/ana.25460DOI Listing
May 2019
2 Reads

Neuronal apolipoprotein E4 increases cell death and phosphorylated tau release in alzheimer disease.

Ann Neurol 2019 May 27;85(5):726-739. Epub 2019 Mar 27.

Department of Neurology, Northwestern University, Chicago, IL.

Objective: The apolipoprotein E (APOE) E4 isoform is the strongest genetic risk factor for sporadic Alzheimer disease (AD). Although APOE is predominantly expressed by astrocytes in the central nervous system, neuronal expression of APOE is of increasing interest in age-related cognitive impairment, neurological injury, and neurodegeneration. Here, we show that endogenous expression of E4 in stem-cell-derived neurons predisposes them to injury and promotes the release of phosphorylated tau. Read More

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http://dx.doi.org/10.1002/ana.25455DOI Listing

Hemodynamics and stroke risk in intracranial atherosclerotic disease.

Ann Neurol 2019 May 3;85(5):752-764. Epub 2019 Apr 3.

Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong, China.

Objective: To investigate whether hemodynamic features of symptomatic intracranial atherosclerotic stenosis (sICAS) might correlate with the risk of stroke relapse, using a computational fluid dynamics (CFD) model.

Methods: In a cohort study, we recruited patients with acute ischemic stroke attributed to 50 to 99% ICAS confirmed by computed tomographic angiography (CTA). With CTA-based CFD models, translesional pressure ratio (PR = pressure /pressure ) and translesional wall shear stress ratio (WSSR = WSS /WSS ) were obtained in each sICAS lesion. Read More

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http://dx.doi.org/10.1002/ana.25456DOI Listing
May 2019
1 Read

Correction.

Authors:

Ann Neurol 2019 Mar;85(3):462-463

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http://dx.doi.org/10.1002/ana.25427DOI Listing

Seeding variability of different alpha synuclein strains in synucleinopathies.

Ann Neurol 2019 May 27;85(5):691-703. Epub 2019 Mar 27.

Department of Neurology, University Medicine Goettingen and the German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.

Objectives: Currently, the exact reasons why different α-synucleinopathies exhibit variable pathologies and phenotypes are still unknown. A potential explanation may be the existence of distinctive α-synuclein conformers or strains. Here, we intend to analyze the seeding activity of dementia with Lewy bodies (DLB) and Parkinson's disease (PD) brain-derived α-synuclein seeds by real-time quaking-induced conversion (RT-QuIC) and to investigate the structure and morphology of the α-synuclein aggregates generated by RT-QuIC. Read More

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http://doi.wiley.com/10.1002/ana.25446
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http://dx.doi.org/10.1002/ana.25446DOI Listing
May 2019
1 Read

Rethinking interhemispheric imbalance as a target for stroke neurorehabilitation.

Ann Neurol 2019 Apr 19;85(4):502-513. Epub 2019 Mar 19.

Department of Physical Medicine and Rehabilitation, Johns Hopkins University, Baltimore, MD.

Objective: Patients with chronic stroke have been shown to have failure to release interhemispheric inhibition (IHI) from the intact to the damaged hemisphere before movement execution (premovement IHI). This inhibitory imbalance was found to correlate with poor motor performance in the chronic stage after stroke and has since become a target for therapeutic interventions. The logic of this approach, however, implies that abnormal premovement IHI is causal to poor behavioral outcome and should therefore be present early after stroke when motor impairment is at its worst. Read More

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http://dx.doi.org/10.1002/ana.25452DOI Listing
April 2019
1 Read

Metabolic patterns across core features in dementia with lewy bodies.

Ann Neurol 2019 May 22;85(5):715-725. Epub 2019 Mar 22.

IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Objective: To identify brain regions whose metabolic impairment contributes to dementia with Lewy bodies (DLB) clinical core features expression and to assess the influence of severity of global cognitive impairment on the DLB hypometabolic pattern.

Methods: Brain fluorodeoxyglucose positron emission tomography and information on core features were available in 171 patients belonging to the imaging repository of the European DLB Consortium. Principal component analysis was applied to identify brain regions relevant to the local data variance. Read More

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http://dx.doi.org/10.1002/ana.25453DOI Listing
May 2019
3 Reads
9.977 Impact Factor

Role of Thalamus in Sleep-Wake Cycle Regulation.

Ann Neurol 2019 Apr 11;85(4):611. Epub 2019 Mar 11.

IRCCS Institute of Neurological Sciences, Bologna, Italy.

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http://dx.doi.org/10.1002/ana.25449DOI Listing

Reply to "Role of Thalamus in Sleep-Wake Cycle Regulation".

Ann Neurol 2019 Apr 11;85(4):612-613. Epub 2019 Mar 11.

Departments of Pediatrics, Neurology, and Psychiatry, University of Iowa Health Care, Iowa City, IA.

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http://dx.doi.org/10.1002/ana.25448DOI Listing

Magnetic resonance imaging-guided phase 1 trial of putaminal AADC gene therapy for Parkinson's disease.

Ann Neurol 2019 May 26;85(5):704-714. Epub 2019 Mar 26.

Department of Neurological Surgery, University of California, San Francisco.

Objective: To understand the safety, putaminal coverage, and enzyme expression of adeno-associated viral vector serotype-2 encoding the complementary DNA for the enzyme, aromatic L-amino acid decarboxylase (VY-AADC01), delivered using novel intraoperative monitoring to optimize delivery.

Methods: Fifteen subjects (three cohorts of 5) with moderately advanced Parkinson's disease and medically refractory motor fluctuations received VY-AADC01 bilaterally coadministered with gadoteridol to the putamen using intraoperative magnetic resonance imaging (MRI) guidance to visualize the anatomic spread of the infusate and calculate coverage. Cohort 1 received 8. Read More

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http://dx.doi.org/10.1002/ana.25450DOI Listing
May 2019
6 Reads

Accumulation of prion protein in the vagus nerve in creutzfeldt-jakob disease.

Ann Neurol 2019 May 11;85(5):782-787. Epub 2019 Mar 11.

Institute of Neurology, Medical University of Vienna, Vienna, Austria.

Disease-associated proteins are thought to propagate along neuronal processes in neurodegenerative diseases. To detect disease-associated prion protein (PrP ) in the vagus nerve in different forms and molecular subtypes of Creutzfeldt-Jakob disease (CJD), we applied 3 different anti-PrP antibodies. We screened the vagus nerve in 162 sporadic and 30 genetic CJD cases. Read More

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http://doi.wiley.com/10.1002/ana.25451
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http://dx.doi.org/10.1002/ana.25451DOI Listing
May 2019
5 Reads

α-Synuclein real-time quaking-induced conversion in the cerebrospinal fluid of uncertain cases of parkinsonism.

Ann Neurol 2019 May 25;85(5):777-781. Epub 2019 Mar 25.

The Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.

A reliable biomarker is needed for accurate and early differentiation between Parkinson disease and the various forms of atypical parkinsonism. We used a novel real-time quaking-induced conversion (RT-QuIC) assay to detect α-synuclein (α-syn) aggregates in cerebrospinal fluid (CSF) of 118 patients with parkinsonism of uncertain clinical etiology and 52 controls. Diagnostic accuracy to distinguish α-synucleinopathies from non-α-synucleinopathies and controls was 84% (sensitivity = 75%, specificity = 94%, area under the curve = 0. Read More

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http://dx.doi.org/10.1002/ana.25447DOI Listing

Smoking and amyotrophic lateral sclerosis: A mendelian randomization study.

Ann Neurol 2019 Apr 13;85(4):482-484. Epub 2019 Mar 13.

The Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

In this study, we examined the potential causal effect of smoking on amyotrophic lateral sclerosis (ALS) using the Project MinE data involving 12,577 patients with ALS and 23,475 controls in a Mendelian randomization (MR) framework. The MR approach has the potential to investigate a causal relationship between a risk factor and a disease, avoiding confounding and information bias that often present in conventional epidemiological studies. We found that smokers had a higher risk of ALS compared to never smokers. Read More

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http://dx.doi.org/10.1002/ana.25443DOI Listing
April 2019
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High-Frequency Oscillation Networks and Surgical Outcome in Adult Focal Epilepsy.

Ann Neurol 2019 Apr 18;85(4):485-494. Epub 2019 Mar 18.

Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.

Objective: To investigate whether high-frequency oscillations (HFOs) show spatiotemporal propagation and assess the relevance of the earliest oscillations in relation to the seizure onset zone (SOZ) and postsurgical outcome.

Methods: We retrospectively investigated the intracerebral electroencephalography (EEG) of patients who became seizure free after subsequent surgery. We marked HFOs during 1 hour of recordings. Read More

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http://doi.wiley.com/10.1002/ana.25442
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http://dx.doi.org/10.1002/ana.25442DOI Listing
April 2019
7 Reads
9.977 Impact Factor

Concordance for Parkinson's disease in twins: A 20-year update.

Ann Neurol 2019 Apr 11;85(4):600-605. Epub 2019 Mar 11.

Department of Neurology; University of California-San Francisco, San Francisco Veterans Affairs Health Care System, University of California-San Francisco, San Francisco, CA.

During the 1990s, we estimated the genetic contribution to Parkinson's disease risk in a large, population-based twin registry. Because many unaffected twins were still alive, previous concordance estimates were based on incomplete information. Ninety-five percent of twins are now deceased. Read More

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http://dx.doi.org/10.1002/ana.25441DOI Listing
April 2019
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Homocysteine and small vessel stroke: A mendelian randomization analysis.

Ann Neurol 2019 Apr 11;85(4):495-501. Epub 2019 Mar 11.

Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Objective: Trials of B vitamin therapy to lower blood total homocysteine (tHcy) levels for prevention of stroke are inconclusive. Secondary analyses of trial data and epidemiological studies suggest that tHcy levels may be particularly associated with small vessel stroke (SVS). We assessed whether circulating tHcy and B vitamin levels are selectively associated with SVS, but not other stroke subtypes, using Mendelian randomization. Read More

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http://dx.doi.org/10.1002/ana.25440DOI Listing

Functional deficiency in endogenous interleukin-1 receptor antagonist in patients with febrile infection-related epilepsy syndrome.

Ann Neurol 2019 Apr 8;85(4):526-537. Epub 2019 Mar 8.

Department of Neurology, Mayo Clinic, Rochester, MN.

Objective: We recently reported successful treatment of a child with febrile infection-related epilepsy syndrome (FIRES), a subtype of new onset refractory status epilepticus, with the recombinant interleukin-1 (IL1) receptor antagonist (IL1RA) anakinra. On this basis, we tested whether endogenous IL1RA production or function is deficient in FIRES patients.

Methods: Levels of IL1β and IL1RA were measured in serum and cerebrospinal fluid (CSF). Read More

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http://dx.doi.org/10.1002/ana.25439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450741PMC

SCN1A gain of function in early infantile encephalopathy.

Ann Neurol 2019 Apr 7;85(4):514-525. Epub 2019 Mar 7.

Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.

Objective: To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurrent missense SCN1A variant, p.Thr226Met. Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. Read More

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http://dx.doi.org/10.1002/ana.25438DOI Listing
April 2019
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A case-control-family study of idiopathic rapid eye movement sleep behavior disorder.

Ann Neurol 2019 Apr 19;85(4):582-592. Epub 2019 Mar 19.

Sleep Assessment Unit, Department of Psychiatry, Faculty of Medicine, Chinese University of Hong Kong, Shatin, Hong Kong, China.

Objective: To determine the familial aggregation of idiopathic rapid eye movement sleep behavior disorder (iRBD), neurodegenerative diseases, and related biomarkers.

Methods: A total of 404 and 387 first-degree relatives of 102 patients with iRBD and of 89 controls were recruited, respectively. Among them, 204 and 208 relatives of patients and controls underwent face-to-face clinical assessment, whereas 97 and 75 relatives underwent further video-polysomnographic assessment, respectively. Read More

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http://dx.doi.org/10.1002/ana.25435DOI Listing
April 2019
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Higher urate in LRRK2 mutation carriers resistant to Parkinson disease.

Ann Neurol 2019 Apr 3;85(4):593-599. Epub 2019 Mar 3.

Department of Neurology, Massachusetts General Hospital.

Objective: LRRK2 mutations, the most common genetic cause of Parkinson disease (PD), display incomplete penetrance, indicating the importance of other genetic and environmental influences on disease pathogenesis in LRRK2 mutation carriers. The present study investigates whether urate, an antioxidant, Nrf2 activator, and inverse risk factor for idiopathic PD, is one such candidate biomarker of PD risk modulation in pathogenic LRRK2 mutation carriers.

Methods: Banked plasma samples or urate levels were obtained for 3 cohorts of age- and sex-matched subjects with and without a known LRRK2 mutation in PD and unaffected controls to conduct a pilot study of 192 subjects from the LRRK2 Cohort Consortium (LCC) and 2 validation studies of 380 additional subjects from the LCC and 922 subjects from the Parkinson's Progression Markers Initiative. Read More

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http://dx.doi.org/10.1002/ana.25436DOI Listing
April 2019
17 Reads
9.977 Impact Factor