11,205 results match your criteria Annals of neurology[Journal]


A case-control-family study of idiopathic rapid eye movement sleep behavior disorder.

Ann Neurol 2019 Feb 13. Epub 2019 Feb 13.

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

Background: 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 89 controls were recruited, respectively. Among them, 204 and 208 relatives of patients and controls underwent face-to-face clinical assessment, while 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
February 2019

Higher urate in LRRK2 mutation carriers resistant to Parkinson's disease.

Ann Neurol 2019 Feb 13. Epub 2019 Feb 13.

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

Objective: LRRK2 mutations, the most common genetic cause of Parkinson's 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 three 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 two validation studies of 380 additional subjects from the LCC and of 922 subjects from the Parkinson Progression Marker Initiative. Read More

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http://dx.doi.org/10.1002/ana.25436DOI Listing
February 2019

Serum neurofilaments increase at PML onset in natalizumab-treated MS patients.

Ann Neurol 2019 Feb 13. Epub 2019 Feb 13.

Department of Neurology, San Raffaele Hospital, Milan, Italy.

This study analyzed serum neurofilament light chains (NfL) in 2 European cohorts of 312 MS patients to investigate whether NfL are biomarkers of PML during natalizumab treatment. The cohort comprised 25 PML, 136 natalizumab-treated, and 151 untreated MS patients. Patients subsequently developing PML had similar NfL to other natalizumab-treated MS patients. Read More

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http://dx.doi.org/10.1002/ana.25437DOI Listing
February 2019

Blood pressure variability and hemorrhagic transformation in patients with successful recanalization after endovascular recanalization therapy: a retrospective observational study.

Ann Neurol 2019 Feb 13. Epub 2019 Feb 13.

Department of Neurology, Seoul National University Hospital, Seoul, Republic of Korea.

Objective: Although BP variability has been regarded as a risk factor for hemorrhagic transformation (HTF) after intravenous thrombolysis, its effect on HTF after endovascular recanalization therapy (ERT) remains to be elucidated. We aimed to study the relationship between BP variability and symptomatic intracerebral hemorrhage (sICH) after successful recanalization with ERT.

Methods: A total of 211 patients with acute ischemic stroke and successful recanalization (Thrombolysis in Cerebral Infarction 2b or 3) after ERT were included between January 2013 and May 2017. Read More

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http://dx.doi.org/10.1002/ana.25434DOI Listing
February 2019

Skin Nerve Pathology: Biomarkers of Premanifest and Manifest Amyloid Neuropathy.

Ann Neurol 2019 Feb 8. Epub 2019 Feb 8.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Objective: Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits.

Methods: Skin biopsies were performed in patients and carriers to measure intraepidermal nerve fiber (IENF) density, sweat gland innervation index of structural protein gene product 9. Read More

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http://dx.doi.org/10.1002/ana.25433DOI Listing
February 2019

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

Ann Neurol 2019 Feb 5. Epub 2019 Feb 5.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA.

Objective: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS).

Methods: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between > 700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. Read More

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http://dx.doi.org/10.1002/ana.25431DOI Listing
February 2019
4 Reads

Remnant cholesterol and risk of ischemic stroke in 112,512 individuals from the general population.

Ann Neurol 2019 Feb 5. Epub 2019 Feb 5.

The Copenhagen General Population Study.

Objective: High remnant cholesterol concentrations are associated with high risk of ischemic heart disease, but whether this is also the case for ischemic stroke is unknown. We tested the hypothesis that high remnant cholesterol concentrations are associated with increased risk of ischemic stroke in the general population.

Methods: 102,964 individuals from the Copenhagen General Population Study with information on remnant cholesterol at baseline in 2003-15 were included in a prospective observational association study. Read More

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http://dx.doi.org/10.1002/ana.25432DOI Listing
February 2019

Cholinergic system changes of falls and freezing of gait in Parkinson disease.

Ann Neurol 2019 Feb 5. Epub 2019 Feb 5.

Radiology, University of Michigan, Ann Arbor, MI, United States, 48104.

Objective: Postural instability and gait difficulties (PIGD) represent debilitating disturbances in Parkinson's disease (PD). Prior acetylcholinesterase PET imaging studies implicate cholinergic changes as significant contributors to PIGD features. These studies were limited in quantification of striatal cholinergic synapse integrity. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25430
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http://dx.doi.org/10.1002/ana.25430DOI Listing
February 2019
3 Reads

The Blood Pressure Paradox in Acute Ischemic Stroke.

Ann Neurol 2019 Feb 5. Epub 2019 Feb 5.

Brain Centre at Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia.

Objective: To explore the association of post-stroke baseline blood pressure with cerebral collateral flow and functional outcome in acute ischemic patients with large vessel occlusion/stenosis.

Methods: Patients identified with large vessel occlusion/stenosis with baseline multimodal computed tomography, follow-up imaging, and complete clinical profiles were included. A 90-day modified Rankin Scale of 0-1 was defined as an excellent functional outcome. Read More

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http://dx.doi.org/10.1002/ana.25428DOI Listing
February 2019
2 Reads

A surface-in gradient of thalamic damage evolves in pediatric multiple sclerosis.

Ann Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Neurology, Perelman Center for Advanced Medicine, University of Pennsylvania, 3400 Civic Center Drive, Philadelphia, PA, USA, 19104.

Objective: Central nervous system (CNS) pathology in multiple sclerosis includes both focal inflammatory perivascular injury and injury to superficial structures, including the subpial region of the cortex, which reportedly exhibits a gradient of damage from the surface inwards. We assessed how early in the multiple sclerosis course a 'surface-in' process of injury suggesting progressive biology may begin.

Methods: We focused on the thalamus which notably has both a cerebrospinal fluid (CSF) interface and a white matter interface. Read More

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http://dx.doi.org/10.1002/ana.25429DOI Listing
February 2019
1 Read

Obstructive sleep apnea treatment and amyloid-β in cerebrospinal fluid.

Authors:
Tomoyuki Kawada

Ann Neurol 2019 Jan 31. Epub 2019 Jan 31.

Department of Hygiene and Public Health, Nippon Medical School.

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http://dx.doi.org/10.1002/ana.25425DOI Listing
January 2019
1 Read

Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A.

Ann Neurol 2019 Jan 31. Epub 2019 Jan 31.

Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, 33136, USA.

Objective: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of eight years. CMT1A is caused in most patients by a uniformly sized 1. Read More

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http://doi.wiley.com/10.1002/ana.25426
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http://dx.doi.org/10.1002/ana.25426DOI Listing
January 2019
1 Read
9.977 Impact Factor

Reply to "Obstructive sleep apnea treatment and amyloid-β in cerebrospinal fluid".

Ann Neurol 2019 Jan 31. Epub 2019 Jan 31.

Department of Neurology, Washington University, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ana.25424DOI Listing
January 2019
1 Read

A Randomized Study of Solriamfetol for Excessive Sleepiness in Narcolepsy.

Ann Neurol 2019 Jan 29. Epub 2019 Jan 29.

Reference National Center for Narcolepsy-Hypersomnia, Gui-de-Chauliac Hospital, CHU Montpellier, INSERM U1061, France.

Objective: Solriamfetol (JZP-110) is a selective dopamine and norepinephrine reuptake inhibitor with wake-promoting effects. This phase 3 study (NCT02348593) evaluated the safety and efficacy of solriamfetol in narcolepsy.

Methods: Patients with narcolepsy with mean sleep latency <25 minutes on the Maintenance of Wakefulness Test (MWT), Epworth Sleepiness Scale (ESS) score ≥10, and usual nightly sleep ≥6 hours were randomized to solriamfetol 75, 150, or 300 mg, or placebo for 12 weeks. Read More

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http://doi.wiley.com/10.1002/ana.25423
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http://dx.doi.org/10.1002/ana.25423DOI Listing
January 2019
4 Reads

Functional magnetic resonance imaging of human motor unit fasciculation in amyotrophic lateral sclerosis.

Ann Neurol 2019 Jan 28. Epub 2019 Jan 28.

Institute of Cellular Medicine and Centre for in vivo Imaging, Newcastle University, Newcastle upon Tyne, United Kingdom.

A novel diffusion-weighted magnetic resonance imaging protocol sensitive to contraction of individual skeletal motor units was developed. We applied this technique to the lower limb muscles of 4 patients with confirmed amyotrophic lateral sclerosis (ALS) and 6 healthy controls. A 3-minute scan revealed florid fasciculation in ALS patients, involving both superficial and deep muscles, and at a frequency higher than in healthy controls. Read More

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http://doi.wiley.com/10.1002/ana.25422
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http://dx.doi.org/10.1002/ana.25422DOI Listing
January 2019
10 Reads

Development of the clinical assessment scale in autoimmune encephalitis.

Ann Neurol 2019 Jan 24. Epub 2019 Jan 24.

Department of Neurology, Seoul National University Hospital, Seoul, South Korea.

Objective: There is no scale for rating the severity of autoimmune encephalitis (AE). In this study, we aimed to develop a novel scale for rating severity in patients with diverse AE syndromes and to verify the reliability and validity of the developed scale.

Methods: The key items were generated by a panel of experts and selected according to content validity ratios. Read More

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http://doi.wiley.com/10.1002/ana.25421
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http://dx.doi.org/10.1002/ana.25421DOI Listing
January 2019
8 Reads

Neural function in DCC mutation carriers with and without mirror movements.

Ann Neurol 2019 Jan 21. Epub 2019 Jan 21.

Department of Psychology, University of Montreal, Montreal, Quebec, Canada.

Objective: Recently identified mutations of the axon guidance molecule receptor gene, DCC, present an opportunity to investigate, in living human brain, mechanisms affecting neural connectivity and the basis of mirror movements, involuntary contralateral responses that mirror voluntary unilateral actions. We hypothesized that haploinsufficient DCC mutation carriers with mirror movements would exhibit decreased DCC mRNA expression, a functional ipsilateral corticospinal tract, greater "mirroring" motor representations, and reduced interhemispheric inhibition. DCC mutation carriers without mirror movements might exhibit some of these features. Read More

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http://dx.doi.org/10.1002/ana.25418DOI Listing
January 2019
1 Read

Motor behavior unmasks residual cognition in disorders of consciousness.

Ann Neurol 2019 Jan 20. Epub 2019 Jan 20.

Department of Clinical Neurosciences, University Hospital CHUV, Lausanne, Switzerland.

Disorders of consciousness (DOC) are a common consequence of severe brain injuries, and clinical evaluation is critical to provide a correct diagnosis and prognosis. The revised Motor Behavior Tool (MBT-r) is a clinical complementary tool aiming to identify subtle motor behaviors that might reflect residual cognition in DOC. In this prospective study including 30 DOC patients in the early stage after brain injury, we show that the revised MBT-r has an excellent inter-rater agreement and has the ability to identify a subgroup of patients, underestimated by the Coma Recovery Scale-Revised, showing residual cognition and a subsequent recovery of consciousness. Read More

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http://dx.doi.org/10.1002/ana.25417DOI Listing
January 2019
1 Read

Factors predicting cessation of status epilepticus in clinical practice: Data from a prospective observational registry (SENSE).

Ann Neurol 2019 Jan 20. Epub 2019 Jan 20.

Epilepsy Center Hessen-Marburg, Department of Neurology, University Hospitals and Philipps-University Marburg, Marburg, Germany.

Objective: To investigate the initial termination rate of status epilepticus (SE) in a large observational study and explore associated variables.

Methods: Data of adults treated for SE were collected prospectively in centers in Germany, Austria, and Switzerland, during 4.5 years. Read More

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http://dx.doi.org/10.1002/ana.25416DOI Listing
January 2019
5 Reads
9.977 Impact Factor

A proliferation-inducing ligand-mediated anti-inflammatory response of astrocytes in multiple sclerosis.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Institute for Advanced Biosciences, Grenoble Alpes University/National Institute of Health and Medical Research U1209/National Center for Scientific Research UMR5309, La Tronche, France.

Objective: The two related tumor necrosis factor members a proliferation-inducing ligand (APRIL) and B-cell activation factor (BAFF) are currently targeted in autoimmune diseases as B-cell regulators. In multiple sclerosis (MS), combined APRIL/BAFF blockade led to unexpected exacerbated inflammation in the central nervous system (CNS) of patients. Here, we investigate the role of the APRIL/BAFF axis in the CNS. Read More

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http://dx.doi.org/10.1002/ana.25415DOI Listing
January 2019
1 Read

Cerebellar degeneration correlates with motor symptoms in Huntington disease.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Centre for Brain Research, University of Auckland, Auckland, New Zealand.

Objective: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by variable motor and behavioral symptoms attributed to major neuropathology of mainly the basal ganglia and cerebral cortex. The role of the cerebellum, a brain region involved in the coordination of movements, in HD neuropathology has been controversial. This study utilizes postmortem human brain tissue to investigate whether Purkinje cell degeneration in the neocerebellum is present in HD, and how this relates to disease symptom profiles. Read More

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http://dx.doi.org/10.1002/ana.25413DOI Listing
January 2019
6 Reads

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.

Objective: SLC13A3 encodes the plasma membrane Na /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in kidney, in astrocytes, and in the choroid plexus. We describe two unrelated patients presenting with acute, reversible (and recurrent in one) neurological deterioration during a febrile illness. Read More

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http://doi.wiley.com/10.1002/ana.25412
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http://dx.doi.org/10.1002/ana.25412DOI Listing
January 2019
4 Reads

Brain and cord imaging features in neuromyelitis optica spectrum disorders.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

Objectives: To validate imaging features able to discriminate neuromyelitis optica spectrum disorders from multiple sclerosis with conventional magnetic resonance imaging (MRI).

Methods: In this cross-sectional study, brain and spinal cord scans were evaluated from 116 neuromyelitis optica spectrum disorder patients (98 seropositive and 18 seronegative) in chronic disease phase and 65 age-, sex-, and disease duration-matched multiple sclerosis patients. To identify independent predictors of neuromyelitis optica diagnosis, after assessing the prevalence of typical/atypical findings, the original cohort was 2:1 randomized in a training sample (where a multivariate logistic regression analysis was run) and a validation sample (where the performance of the selected variables was tested and validated). Read More

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http://doi.wiley.com/10.1002/ana.25411
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http://dx.doi.org/10.1002/ana.25411DOI Listing
January 2019
2 Reads

Abundant glutamic acid decarboxylase (GAD)-reactive B cells in gad-antibody-associated neurological disorders.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Institute of Clinical Neuroimmunology, University Hospital and Biomedical Center, Ludwig-Maximilians University Munich, Munich, Germany.

High levels of antibodies against glutamic acid decarboxylase (GAD) are observed in patients with different neurological disorders, but cells producing these autoantibodies are largely unexplored. We detect circulating GAD-reactive B cells in peripheral blood that readily differentiate into antibody-producing cells. These cells are highly elevated in most patients with GAD-antibody-associated disorders (n = 15) compared to controls (n = 19). Read More

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http://dx.doi.org/10.1002/ana.25414DOI Listing
January 2019
2 Reads

Amyloid-β immunotherapy for alzheimer disease: Is it now a long shot?

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Department of Research and Development, Chiesi Pharmaceuticals, Parma, Italy.

The amyloid-β (Aβ) cascade hypothesis of Alzheimer disease (AD) holds that brain accumulation of Aβ initiates the disease process. Accordingly, drug research has targeted Aβ production, clearance, and deposition as therapeutic strategies. Unfortunately, candidate drugs have failed to show clinical benefit in established, early, or prodromal disease, or in those with high AD risk. Read More

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http://dx.doi.org/10.1002/ana.25410DOI Listing
January 2019
2 Reads
9.977 Impact Factor

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.

Ann Neurol 2019 Feb;85(2):251-258

i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto.

Objective: Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, found also to act as modifiers for other disorders. Read More

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http://doi.wiley.com/10.1002/ana.25409
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http://dx.doi.org/10.1002/ana.25409DOI Listing
February 2019
6 Reads

Metabolic patterns and seizure outcomes following anterior temporal lobectomy.

Ann Neurol 2019 Feb 17;85(2):241-250. Epub 2019 Jan 17.

Departments of Medicine and Neurology, Melbourne Brain Centre, University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria, Australia.

Objective: We investigated the relationship between the interictal metabolic patterns, the extent of resection of F-fluorodeoxyglucose positron emission tomography ( FDG-PET) hypometabolism, and seizure outcomes in patients with unilateral drug-resistant mesial temporal lobe epilepsy (MTLE) following anterior temporal lobe (TL) resection.

Methods: Eighty-two patients with hippocampal sclerosis or normal magnetic resonance imaging (MRI) findings, concordant FDG-PET hypometabolism, and at least 2 years of postoperative follow-up were included in this 2-center study. The hypometabolic regions in each patient were identified with reference to 20 healthy controls (p < 0. Read More

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http://dx.doi.org/10.1002/ana.25405DOI Listing
February 2019
1 Read

Longitudinal tau accumulation and atrophy in aging and alzheimer disease.

Ann Neurol 2019 Feb 17;85(2):229-240. Epub 2019 Jan 17.

Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA.

Objective: To determine the rate of tau accumulation in healthy older adults (OA) and patients with Alzheimer disease (AD), as well as the relationship of tau accumulation to cortical atrophy.

Methods: Two longitudinal flortaucipir (FTP) positron emission tomography (PET) and magnetic resonance imaging (MRI) scans were acquired from 42 OA (21 Pittsburg compound B [PiB] , age = 77.6 ± 4. Read More

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http://dx.doi.org/10.1002/ana.25406DOI Listing
February 2019
3 Reads

In vivo metabotropic glutamate receptor type 5 abnormalities localize the epileptogenic zone in mesial temporal lobe epilepsy.

Ann Neurol 2019 Feb 20;85(2):218-228. Epub 2019 Jan 20.

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

Objective: Surgical specimens from patients with mesial temporal lobe epilepsy (MTLE) show abnormalities in tissue concentrations of metabotropic glutamate receptor type 5 (mGluR5). To clarify whether these abnormalities are specific to the epileptogenic zone (EZ), we characterized in vivo whole-brain mGluR5 availability in MTLE patients using positron emission tomography (PET) and [ C]ABP688, a radioligand that binds specifically to the mGluR5 allosteric site.

Methods: Thirty-one unilateral MTLE patients and 30 healthy controls underwent [ C]ABP688 PET. Read More

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http://dx.doi.org/10.1002/ana.25404DOI Listing
February 2019
2 Reads

Obstructive sleep apnea treatment, slow wave activity, and amyloid-β.

Ann Neurol 2019 Feb 17;85(2):291-295. Epub 2019 Jan 17.

Department of Neurology, Washington University, Saint Louis, MO.

Obstructive sleep apnea (OSA) increases risk of dementia, a relationship that may be mediated by amyloid-β (Aβ) and downstream Alzheimer disease pathology. We previously showed that OSA may impair Aβ clearance and affect the relationship between slow wave activity (SWA) and Aβ. In this study, SWA and CSF Aβ were measured in participants with OSA before and 1 to 4 months after treatment. Read More

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http://dx.doi.org/10.1002/ana.25408DOI Listing
February 2019
3 Reads

Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Ann Neurol 2019 Feb 17;85(2):204-217. Epub 2019 Jan 17.

INSERM U1129, Infantile Epilepsies and Brain Plasticity, Paris Descartes University, PRES Sorbonne Paris Cité, Paris, France.

Objective: Dysregulation of γ-aminobutyric acidergic (GABAergic) transmission has been reported in lesional acquired epilepsies (gliomas, hippocampal sclerosis). We investigated its involvement in a developmental disorder, human focal cortical dysplasia (FCD), focusing on chloride regulation driving GABAergic signals.

Methods: In vitro recordings of 47 human cortical acute slices from 11 pediatric patients who received operations for FCD were performed on multielectrode arrays. Read More

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http://dx.doi.org/10.1002/ana.25403DOI Listing
February 2019
2 Reads

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.

Ann Neurol 2019 Feb 17;85(2):284-290. Epub 2019 Jan 17.

Stroke Research Centre, Department of Brain Repair and Rehabilitation, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London.

Amyloid-β transmission has been described in patients both with and without iatrogenic Creutzfeldt-Jakob disease; however, there is little information regarding the clinical impact of this acquired amyloid-β pathology during life. Here, for the first time, we describe in detail the clinical and neuroimaging findings in 3 patients with early onset symptomatic amyloid-β cerebral amyloid angiopathy following childhood exposure to cadaveric dura (by neurosurgical grafting in 2 patients and tumor embolization in a third). Our observations provide further in vivo evidence that cerebral amyloid angiopathy might be caused by transmission of amyloid-β seeds (prions) present in cadaveric dura and have diagnostic relevance for younger patients presenting with suspected cerebral amyloid angiopathy. Read More

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http://doi.wiley.com/10.1002/ana.25407
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http://dx.doi.org/10.1002/ana.25407DOI Listing
February 2019
4 Reads

Vascular Risk and β-Amyloid Are Synergistically Associated with Cortical Tau.

Ann Neurol 2019 Feb 7;85(2):272-279. Epub 2019 Jan 7.

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

Objective: Neuropathological studies have demonstrated that cerebrovascular disease and Alzheimer disease (AD) pathology frequently co-occur in older adults. The extent to which cerebrovascular disease influences the progression of AD pathology remains unclear. Leveraging newly available positron emission tomography (PET) imaging, we examined whether a well-validated measure of systemic vascular risk and β-amyloid (Aβ) burden have an interactive association with regional tau burden. Read More

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http://doi.wiley.com/10.1002/ana.25399
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http://dx.doi.org/10.1002/ana.25399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351182PMC
February 2019
10 Reads

Passages 2019.

Authors:
Clifford B Saper

Ann Neurol 2019 Jan;85(1):1-11

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http://dx.doi.org/10.1002/ana.25397DOI Listing
January 2019
1 Read

Visceral obesity relates to deep white matter hyperintensities via inflammation.

Ann Neurol 2019 Feb;85(2):194-203

Department of Neurology, Max-Planck-Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.

Objective: White matter hyperintensities (WMHs) are linked to vascular risk factors and increase the risk of cognitive decline, dementia, and stroke. We here aimed to determine whether obesity contributes to regional WMHs using a whole-brain approach in a well-characterized population-based cohort.

Methods: Waist-to-hip ratio (WHR), body mass index (BMI), systolic/diastolic blood pressure, hypertension, diabetes and smoking status, blood glucose and inflammatory markers, as well as distribution of WMH were assessed in 1,825 participants of the LIFE-adult study (age, 20-82 years; BMI, 18. Read More

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http://dx.doi.org/10.1002/ana.25396DOI Listing
February 2019
1 Read

Visual processing in migraineurs depends on the migraine cycle.

Ann Neurol 2019 Feb 17;85(2):280-283. Epub 2019 Jan 17.

Department of Systems Neuroscience, University Medical Center Eppendorf, Hamburg, Germany.

We investigated changes of after-image duration in migraineurs and healthy controls (HCs) and throughout the migraine cycle to depict changes in the excitatory/inhibitory equilibrium within the visual cortex. Forty-seven episodic (EMs) and 39 chronic migraineurs (CMs; interictal) were compared to 34 HCs for visual after-image duration. Additionally, seven EMs were investigated every consecutive day over 20 to 32 days using the identical paradigm throughout the migraine cycle. Read More

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http://dx.doi.org/10.1002/ana.25398DOI Listing
February 2019
1 Read

Cognitive and Pathological Influences of Tau Pathology in Lewy Body Disorders.

Ann Neurol 2019 Feb 7;85(2):259-271. Epub 2019 Jan 7.

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania.

Objective: To use digital histology in a large autopsy cohort of Lewy body disorder (LBD) patients with dementia to test the hypotheses that co-occurring Alzheimer disease (AD) pathology impacts the anatomic distribution of α-synuclein (SYN) pathology and that co-occurring neocortical tau pathology in LBDs associates with worse cognitive performance and occurs in a pattern differing from AD.

Methods: Fifty-five autopsy-confirmed LBD (Parkinson disease with dementia, n = 36; dementia with Lewy bodies, n = 19) patients and 25 AD patients were studied. LBD patients were categorized as having moderate/severe AD copathology (SYN + AD = 20) or little/no AD copathology (SYN-AD = 35). Read More

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http://dx.doi.org/10.1002/ana.25392DOI Listing
February 2019
2 Reads

DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease.

Ann Neurol 2019 Feb 13;85(2):296-301. Epub 2019 Jan 13.

Department of Biology, University of Naples Federico II, Naples, Italy.

Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length and DNA double-strand breaks (histone variant pγ-H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 premanifest subjects, 58 HD patients with similar CAG expansion in the huntingtin gene (HTT), and 44 healthy controls (HC). PBMC from the pre-HD and HD groups showed shorter telomeres (p < 0. Read More

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http://dx.doi.org/10.1002/ana.25393DOI Listing
February 2019
12 Reads

The impact of amyloid-beta and tau on prospective cognitive decline in older individuals.

Ann Neurol 2019 Feb 21;85(2):181-193. Epub 2019 Jan 21.

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

Objectives: Amyloid-beta (Aβ) and tau pathologies are commonly observed among clinically normal older individuals at postmortem and can now be detected with in vivo neuroimaging. The association and interaction of these proteinopathies with prospective cognitive decline in normal aging and preclinical Alzheimer's disease (AD) remains to be fully elucidated.

Methods: One hundred thirty-seven older individuals (age = 76. Read More

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http://dx.doi.org/10.1002/ana.25395DOI Listing
February 2019
3 Reads

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Ann Neurol 2019 Feb;85(2):170-180

Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge, United Kingdom.

Objective: Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations.

Methods: Cross-sectional data were collected retrospectively. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25394
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http://dx.doi.org/10.1002/ana.25394DOI Listing
February 2019
9 Reads

Stroke Recovery in Rats after 24-Hour-Delayed Intramuscular Neurotrophin-3 Infusion.

Ann Neurol 2019 Jan 28;85(1):32-46. Epub 2018 Dec 28.

Neurorestoration Group, Wolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom.

Objective: Neurotrophin-3 (NT3) plays a key role in the development and function of locomotor circuits including descending serotonergic and corticospinal tract axons and afferents from muscle and skin. We have previously shown that gene therapy delivery of human NT3 into affected forelimb muscles improves sensorimotor recovery after stroke in adult and elderly rats. Here, to move toward the clinic, we tested the hypothesis that intramuscular infusion of NT3 protein could improve sensorimotor recovery after stroke. Read More

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http://dx.doi.org/10.1002/ana.25386DOI Listing
January 2019
2 Reads

Lyme Neuroborreliosis: Clinical Outcomes, Controversy, Pathogenesis, and Polymicrobial Infections.

Ann Neurol 2019 Jan;85(1):21-31

Departments of Molecular Genetics and Microbiology, Stony Brook University School of Medicine, Stony Brook, NY.

Lyme borreliosis is the object of numerous misconceptions. In this review, we revisit the fundamental manifestations of neuroborreliosis (meningitis, cranial neuritis, and radiculoneuritis), as these have withstood the test of time. We also discuss other manifestations that are less frequent. Read More

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http://dx.doi.org/10.1002/ana.25389DOI Listing
January 2019
2 Reads

Predicting Progression to Mild Cognitive Impairment.

Ann Neurol 2019 Jan 7;85(1):155-160. Epub 2019 Jan 7.

Department of Radiology, Mayo Clinic, Rochester, MN.

Despite much attention to the use of biomarkers for predicting Alzheimer disease, little information is available at the individual level. We used the population-based Mayo Clinic Study of Aging to estimate absolute risk of cognitive impairment by biomarker group. Risk increased with age and any biomarker abnormality. Read More

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http://doi.wiley.com/10.1002/ana.25388
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http://dx.doi.org/10.1002/ana.25388DOI Listing
January 2019
15 Reads

Challenges of differential placebo effects in contemporary medicine: The example of brain stimulation.

Ann Neurol 2019 Jan 8;85(1):12-20. Epub 2019 Jan 8.

Berenson-Allen Center for Noninvasive Brain Stimulation and Division of Cognitive Neurology, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

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http://doi.wiley.com/10.1002/ana.25387
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http://dx.doi.org/10.1002/ana.25387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342627PMC
January 2019
9 Reads

Serum Soluble Triggering Receptor Expressed on Myeloid Cells 2 as a Biomarker for Incident Dementia: The Hisayama Study.

Ann Neurol 2019 Jan 28;85(1):47-58. Epub 2018 Dec 28.

Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University, Fukuoka.

Objective: To investigate the association between serum soluble triggering receptor expressed on myeloid cells 2 (sTREM2), a soluble type of an innate immune receptor expressed on the microglia, and the risk of dementia.

Methods: A total of 1,349 Japanese community residents aged 60 and older without dementia were followed prospectively for 10 years (2002-2012). Serum sTREM2 levels were quantified by using an enzyme-linked immunosorbent assay and divided into quartiles. Read More

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http://dx.doi.org/10.1002/ana.25385DOI Listing
January 2019
16 Reads

Six-Month Assessment of a Hand Prosthesis with Intraneural Tactile Feedback.

Ann Neurol 2019 Jan 24;85(1):137-154. Epub 2018 Dec 24.

Bertarelli Foundation Chair in Translational Neuroengineering, Center for Neuroprosthetics and Institute of Bioengineering, School of Engineering, Swiss Federal Institute of Technology of Lausanne (EPFL), Lausanne, Switzerland.

Objective: Hand amputation is a highly disabling event, which significantly affects quality of life. An effective hand replacement can be achieved if the user, in addition to motor functions, is provided with the sensations that are naturally perceived while grasping and moving. Intraneural peripheral electrodes have shown promising results toward the restoration of the sense of touch. Read More

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http://doi.wiley.com/10.1002/ana.25384
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http://dx.doi.org/10.1002/ana.25384DOI Listing
January 2019
13 Reads

Correction: An extremely severe phenotype attributed to WDR81 nonsense mutations.

Authors:

Ann Neurol 2018 Nov;84(5):796

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http://dx.doi.org/10.1002/ana.25335DOI Listing
November 2018
6 Reads

Final Results of the RHAPSODY Trial: A Multi-Center, Phase 2 Trial Using a Continual Reassessment Method to Determine the Safety and Tolerability of 3K3A-APC, A Recombinant Variant of Human Activated Protein C, in Combination with Tissue Plasminogen Activator, Mechanical Thrombectomy or both in Moderate to Severe Acute Ischemic Stroke.

Ann Neurol 2019 Jan 7;85(1):125-136. Epub 2019 Jan 7.

Zilkha Neurogenetic Institute and Department of Physiology and Neuroscience, Keck School of Medicine, University of Southern California Los Angeles, Los Angeles, CA.

Objective: Agonism of protease-activated receptor (PAR) 1 by activated protein C (APC) provides neuro- and vasculoprotection in experimental neuroinjury models. The pleiotropic PAR1 agonist, 3K3A-APC, reduces neurological injury and promotes vascular integrity; 3K3A-APC proved safe in human volunteers. We performed a randomized, controlled, blinded trial to determine the maximally tolerated dose (MTD) of 3K3A-APC in ischemic stroke patients. Read More

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http://doi.wiley.com/10.1002/ana.25383
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http://dx.doi.org/10.1002/ana.25383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342508PMC
January 2019
20 Reads

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Ann Neurol 2018 Dec;84(6):814-828

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama.

Objective: Galloway-Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome. Biallelic mutations in WDR73 and the 4 subunit genes of the KEOPS complex are reported to cause GAMOS. Furthermore, an identical homozygous NUP107 (nucleoporin 107kDa) mutation was identified in 4 GAMOS-like families, although biallelic NUP107 mutations were originally identified in steroid-resistant nephrotic syndrome. Read More

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http://doi.wiley.com/10.1002/ana.25370
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http://dx.doi.org/10.1002/ana.25370DOI Listing
December 2018
11 Reads