997 results match your criteria Annals of clinical and translational neurology[Journal]


Reply to: Early white matter changes on diffusion tensor imaging in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2020 Jul 8. Epub 2020 Jul 8.

Department of Neuroscience, Trafford Centre, Brighton and Sussex Medical School, University of Sussex, Brighton, East Sussex, UK.

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http://dx.doi.org/10.1002/acn3.51107DOI Listing

Early white matter changes on diffusion tensor imaging in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2020 Jul 8. Epub 2020 Jul 8.

Disciplina de Neurociência, Escola Paulista de Medicina/Universidade Federal de São Paulo/(EPM/UNIFESP), São Paulo, Brasil.

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http://dx.doi.org/10.1002/acn3.51108DOI Listing

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Department of Neurology and Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.

Objective: Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification is crucial for evaluating the efficacy of therapeutic interventions. However, balance evaluation in SCA3 is often subject to bias. Read More

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http://dx.doi.org/10.1002/acn3.51124DOI Listing

Inflammatory pathway analytes predicting rapid cognitive decline in MCI stage of Alzheimer's disease.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Lou Ruvo Center for Brain Health, Cleveland Clinic, Cleveland, Ohio, 44195.

Objective: To determine the inflammatory analytes that predict clinical progression and evaluate their performance against biomarkers of neurodegeneration.

Methods: A longitudinal study of MCI-AD patients in a Discovery cohort over 15 months, with replication in the Alzheimer's Disease Neuroimaging Initiative (ADNI) MCI cohort over 36 months. Fifty-three inflammatory analytes were measured in the CSF and plasma with a RBM multiplex analyte platform. Read More

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http://dx.doi.org/10.1002/acn3.51109DOI Listing

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

Objective: The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions.

Methods: Eleven adult patients with progressive external ophthalmoplegia and a known single mtDNA deletion were investigated. Urinary sediment cells were used to isolate DNA, which was then subjected to long-range polymerase chain reaction. Read More

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http://dx.doi.org/10.1002/acn3.51119DOI Listing

Cognitive impairment in patients with Neuro-Sjögren.

Ann Clin Transl Neurol 2020 Jul 6. Epub 2020 Jul 6.

Department of Neurology, Hanover Medical School, Hanover, Germany.

Objective: Extraglandular neurological manifestations of Sjögren's syndrome are increasingly recognized, defining the disease entity of Neuro-Sjögren. Neuropsychological assessment of patients with Sjögren's syndrome has hitherto been performed on predominantly rheumatological cohorts. These studies revealed a wide variety of prevalence rates for cognitive impairment (22-80%), while variable cut-off criteria for detection of cognitive impairment were applied. Read More

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http://dx.doi.org/10.1002/acn3.51123DOI Listing

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.

Ann Clin Transl Neurol 2020 Jul 5. Epub 2020 Jul 5.

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

The clinical phenotype linked with mutations in ABCB1, encoding P-glycoprotein, has never been reported. Here, we describe twin sisters with biallelic mutations in ABCB1 who showed recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. Whole-exome sequencing was performed on one of the twin and her healthy parents, and revealed compound heterozygous loss-of-function variants in ABCB1. Read More

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http://dx.doi.org/10.1002/acn3.51125DOI Listing

Predictors of worsening neuropathy and neuropathic pain after 12 years in people with HIV.

Ann Clin Transl Neurol 2020 Jul 3. Epub 2020 Jul 3.

Departments of Medicine and Psychiatry, University of California, San Diego, La Jolla, California.

Objective: Distal sensory polyneuropathy (DSP) and neuropathic pain are important clinical concerns in virally suppressed people with HIV. We determined how these conditions evolved, what factors influenced their evolution, and their clinical impact.

Methods: Ambulatory, community-dwelling HIV seropositive individuals were recruited at six research centers. Read More

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http://dx.doi.org/10.1002/acn3.51097DOI Listing

Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.

Ann Clin Transl Neurol 2020 Jul 2. Epub 2020 Jul 2.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, 510080, China.

Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Read More

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http://dx.doi.org/10.1002/acn3.51106DOI Listing

Neuronal RNA-binding protein dysfunction in multiple sclerosis cortex.

Ann Clin Transl Neurol 2020 Jul 1. Epub 2020 Jul 1.

Department of Anatomy, Physiology and Pharmacology & Cameco MS Neuroscience Research Center, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.

Objective: Neurodegeneration is thought to be the primary cause of neurological disability in multiple sclerosis (MS). Dysfunctional RNA-binding proteins (RBPs) including their mislocalization from nucleus to cytoplasm, stress granule formation, and altered RNA metabolism have been found to underlie neurodegeneration in amyotrophic lateral sclerosis and frontotemporal dementia. Yet, little is known about the role of dysfunctional RBPs in the pathogenesis of neurodegeneration in MS. Read More

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http://dx.doi.org/10.1002/acn3.51103DOI Listing

Association between amphetamine-related disorders and dementia-a nationwide cohort study in Taiwan.

Ann Clin Transl Neurol 2020 Jun 30. Epub 2020 Jun 30.

Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.

Objective: We have conducted a study to clarify the association between amphetamine-related disorders (ARD) and the risk of developing dementia.

Methods: This study used a retrospective cohort design by using Taiwan's National Health Research Institute Database. A random sample of 68,300 subjects between January 1, 2000, and December 31, 2015, was obtained, comprising of 17,075 patients with ARD, and 51,225 controls without ARD (1:3), matched for gender and age group. Read More

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http://dx.doi.org/10.1002/acn3.51113DOI Listing

Parkinson disease clinical subtypes: key features & clinical milestones.

Ann Clin Transl Neurol 2020 Jun 29. Epub 2020 Jun 29.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

Objectives: Based on multi-domain classification of Parkinson disease (PD) subtypes, we sought to determine the key features that best differentiate subtypes and the utility of PD subtypes to predict clinical milestones.

Methods: Prospective cohort of 162 PD participants with ongoing, longitudinal follow-up. Latent class analysis (LCA) delineated subtypes based on score patterns across baseline motor, cognitive, and psychiatric measures. Read More

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http://dx.doi.org/10.1002/acn3.51102DOI Listing

Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA m.4349C>T Variant.

Ann Clin Transl Neurol 2020 06;7(6):980-991

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong, 250000, China.

Objective: Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA, among which, mutations in mitochondrial tRNA genes possessing prominent status. In most of the cases, however, the detailed molecular pathogenesis of these tRNA gene mutations remains unclear.

Methods: We performed the clinical emulation, muscle histochemistry, northern blotting analysis of tRNA levels, biochemical measurement of respiratory chain complex activities and mitochondrial respirations in muscle tissue and cybrid cells. Read More

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http://dx.doi.org/10.1002/acn3.51069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318088PMC

Urate is closely linked to white matter integrity in multiple system atrophy.

Ann Clin Transl Neurol 2020 06;7(6):1029-1039

Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea.

Objective: We aimed to investigate the association of the serum urate level with cortical thickness and white matter integrity in multiple system atrophy (MSA).

Methods: We recruited 75 MSA patients and 42 controls who underwent brain MRI and measured serum urate level at baseline. Using cortical thickness and tract-based spatial statistics analyses, we investigated the correlation between serum urate levels and cortical thickness or diffusion tensor imaging (DTI) measures in controls and MSA patients. Read More

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http://dx.doi.org/10.1002/acn3.51073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318089PMC

Demographic characteristics and neuropsychological assessments of subjective cognitive decline (SCD) (plus).

Ann Clin Transl Neurol 2020 06;7(6):1002-1012

Department of Neurology, XuanWu Hospital of Capital Medical University, Beijing, China.

Background: Since SCD (plus) was standardized, little is known about its demographic characteristics and its outcomes of neuropsychological assessments, including the SCD questionnaire 9 (SCD-Q9).

Objective: To characterize SCD (plus) by comparing the neuropsychological features among its subgroups and with normal controls (NC). Also, to explore its demographics and to understand the relation of the chief complaints and the scores of SCD-Q9. Read More

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http://dx.doi.org/10.1002/acn3.51068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317645PMC

Relation of plasma β-amyloid, clusterin, and tau with cerebral microbleeds: Framingham Heart Study.

Ann Clin Transl Neurol 2020 Jun 26. Epub 2020 Jun 26.

Department of Neurology, Boston University School of Medicine, Boston, Massachusetts.

Objective: Cerebral microbleeds (CMBs) are associated with higher risk of stroke and dementia, predating clinical diagnosis by several years. CMB are considered markers of cerebral small vessel disease (CSVD): hypertensive (deep CMB) and cerebral amyloid angiopathy (lobar CMB). We related plasma β-Amyloid (40, 42 and their ratio), clusterin, and tau levels to CMB to elucidate their role as biomarkers for the angiopathies represented by CMB. Read More

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http://dx.doi.org/10.1002/acn3.51066DOI Listing

Accuracy of FGF-21 and GDF-15 for the diagnosis of mitochondrial disorders: A meta-analysis.

Ann Clin Transl Neurol 2020 Jun 25. Epub 2020 Jun 25.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250000, China.

Objective: Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) represent promising biomarkers for MD diagnosis. Herein we conducted a meta-analysis to compare their diagnostic accuracy for MDs. Read More

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http://dx.doi.org/10.1002/acn3.51104DOI Listing

Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.

Ann Clin Transl Neurol 2020 Jun 17. Epub 2020 Jun 17.

Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Objective: Recent advances in therapeutics have improved prognosis for severely affected spinal muscular atrophy (SMA) type 1 and 2 patients, while the best method of treatment for SMA type 3 patients with later onset of disease is unknown. To better characterize the SMA type 3 population and provide potential therapeutic targets, we aimed to understand gene expression differences in whole blood of SMA type 3 patients (n = 31) and age- and gender-matched controls (n = 34).

Methods: We performed the first large-scale whole blood transcriptomic screen with L1000, a rapid, high-throughput gene expression profiling technology that uses 978 landmark genes to capture a representation of the transcriptome and predict expression of 9196 additional genes. Read More

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http://dx.doi.org/10.1002/acn3.51092DOI Listing

Impaired phonemic discrimination in logopenic variant primary progressive aphasia.

Ann Clin Transl Neurol 2020 Jun 18. Epub 2020 Jun 18.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.

Logopenic variant primary progressive aphasia (lvPPA) is the least well defined of the major primary progressive aphasia (PPA) syndromes. We assessed phoneme discrimination in patients with PPA (semantic, nonfluent/agrammatic, and logopenic variants) and typical Alzheimer's disease, relative to healthy age-matched participants. The lvPPA group performed significantly worse than all other groups apart from tAD, after adjusting for auditory verbal working memory. Read More

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http://dx.doi.org/10.1002/acn3.51101DOI Listing

Spreading in ALS: The relative impact of upper and lower motor neuron involvement.

Ann Clin Transl Neurol 2020 Jun 18. Epub 2020 Jun 18.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

Objective: To investigate disease spread in amyotrophic lateral sclerosis (ALS), and determine the influence of lower (LMN) and upper motor neuron (UMN) involvement.

Methods: We assessed disease spread in ALS in 1376 consecutively studied patients, from five European centers, applying an agreed proforma to assess LMN and UMN signs. We defined the pattern of disease onset and progression from predominant UMN or lower motor neuron (LMN) dysfunction in bulbar, upper limbs, lower limbs, and thoracic regions Non-linear regression analysis was applied to fit the data to a model that described the relation between two random variables, graphically represented by an inverse exponential curve. Read More

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http://dx.doi.org/10.1002/acn3.51098DOI Listing

Effect of thalamic deep brain stimulation on swallowing in patients with essential tremor.

Ann Clin Transl Neurol 2020 Jun 16. Epub 2020 Jun 16.

Department of Neurology, University Hospital Muenster, Muenster, Germany.

Objective: Deep brain stimulation (DBS) of the ventral intermediate nucleus (VIM) is a mainstay treatment for severe and drug-refractory essential tremor (ET). Although stimulation-induced dysarthria has been extensively described, possible impairment of swallowing has not been systematically investigated yet.

Methods: Twelve patients with ET and bilateral VIM-DBS with self-reported dysphagia after VIM-DBS were included. Read More

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http://dx.doi.org/10.1002/acn3.51099DOI Listing

Transmission of CJD from nasal brushings but not spinal fluid or RT-QuIC product.

Ann Clin Transl Neurol 2020 06 15;7(6):932-944. Epub 2020 Jun 15.

Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute for Allergy and Infectious Diseases, National Institutes of Health, Hamilton, Montana.

Objective: The detection of prion seeding activity in CSF and olfactory mucosal brushings using real-time quaking-induced conversion assays allows highly accurate clinical diagnosis of sporadic Creutzfeldt-Jakob disease. To gauge transmission risks associated with these biospecimens and their testing, we have bioassayed prion infectivity levels in patients' brain tissue, nasal brushings, and CSF, and assessed the pathogenicity of amplified products of real-time quaking-induced conversion assays seeded with Creutzfeldt-Jakob disease prions.

Methods: We obtained olfactory mucosal brushings and CSF from patients with a final diagnosis of sporadic Creutzfeldt-Jakob disease subtype MM1 (n = 3). Read More

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http://dx.doi.org/10.1002/acn3.51057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318090PMC

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Ann Clin Transl Neurol 2020 Jun 12. Epub 2020 Jun 12.

Department of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, 467-8601, Japan.

Objective: Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large-scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs. Read More

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http://dx.doi.org/10.1002/acn3.51093DOI Listing

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

Ann Clin Transl Neurol 2020 06 9;7(6):1013-1028. Epub 2020 Jun 9.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

Objective: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. Read More

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http://dx.doi.org/10.1002/acn3.51074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318087PMC

Impaired cognition is related to microstructural integrity in relapsing remitting multiple sclerosis.

Ann Clin Transl Neurol 2020 Jun 9. Epub 2020 Jun 9.

Department of Medicine and Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.

Background: Cognitive impairment is common in multiple sclerosis (MS). However, the relationship between cognitive deficits and microstructural abnormalities in Chinese MS patients remains unclear. We aimed to investigate the importance of microstructural abnormalities and the associations with cognitive impairment in Chinese MS patients. Read More

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http://dx.doi.org/10.1002/acn3.51100DOI Listing

Longitudinal biomarkers in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2020 Jun 9. Epub 2020 Jun 9.

Sean M. Healey and AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA.

Objective: To investigate neurodegenerative and inflammatory biomarkers in people with amyotrophic lateral sclerosis (PALS), evaluate their predictive value for ALS progression rates, and assess their utility as pharmacodynamic biomarkers for monitoring treatment effects.

Methods: De-identified, longitudinal plasma, and cerebrospinal fluid (CSF) samples from PALS (n = 108; 85 with samples from ≥2 visits) and controls without neurological disease (n = 41) were obtained from the Northeast ALS Consortium (NEALS) Biofluid Repository. Seventeen of 108 PALS had familial ALS, of whom 10 had C9orf72 mutations. Read More

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http://dx.doi.org/10.1002/acn3.51078DOI Listing

The CSF Levels of Neutrophil-Related Chemokines in Patients with Neuromyelitis Optica.

Ann Clin Transl Neurol 2020 Jun 9. Epub 2020 Jun 9.

Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Pathologic findings showed that neutrophils played an important role in the pathogenesis of NMO. This study aims to investigate the CSF levels of neutrophil-related chemokines in NMO. CXCL1, CXCL5, and CXCL7 were measured in 95 patients with NMO, 15 patients with MS, 18 patients with GFAP astrocytopathy, and 16 controls. Read More

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http://dx.doi.org/10.1002/acn3.51094DOI Listing

Improved ALS clinical trials through frequent at-home self-assessment: a proof of concept study.

Ann Clin Transl Neurol 2020 Jun 9. Epub 2020 Jun 9.

Barrow Neurological Clinic, Phoenix, AZ, USA.

Objective: To determine the potential for improving amyotrophic lateral sclerosis (ALS) clinical trials by having patients or caregivers perform frequent self-assessments at home.

Methods And Participants: We enrolled ALS patients into a nonblinded, longitudinal 9-month study in which patients and caregivers obtained daily data using several different instruments, including a slow-vital capacity device, a hand grip dynamometer, an electrical impedance myography-based fitness device, an activity tracker, a speech app, and the ALS functional rating scale-revised. Questions as to acceptability were asked at two time points. Read More

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http://dx.doi.org/10.1002/acn3.51096DOI Listing

Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia.

Ann Clin Transl Neurol 2020 06 8;7(6):1050-1054. Epub 2020 Jun 8.

Department of Neurology, CUB Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Belgium.

Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS). Friedreich ataxia (FRDA) disease progression relates to degeneration of the dentate nucleus and dentato-thalamic pathways, causing cerebellar ataxia. Volumetric MRI also shows mild loss in the cerebellar cortex, brainstem, and motor cortex. Read More

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http://dx.doi.org/10.1002/acn3.51079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317641PMC

Early prediction of adverse outcomes in infants with acute bilirubin encephalopathy.

Ann Clin Transl Neurol 2020 Jun 4. Epub 2020 Jun 4.

Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and Third Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China.

Objective: Acute bilirubin encephalopathy (ABE) remains one of the important causes of neonatal mortality and child disability, early identification, and intervention which could improve outcomes. The purpose of this study was to evaluate early predictors of adverse outcomes in infants with ABE.

Methods: Newborns of gestational age ≥ 35 weeks and diagnosed with ABE were included in the study. Read More

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http://dx.doi.org/10.1002/acn3.51077DOI Listing

Utility of metabolic screening in neurological presentations of infancy.

Ann Clin Transl Neurol 2020 Jun 4. Epub 2020 Jun 4.

Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada.

Background: The first-line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the utility of such testing by determining the proportion of patients whose diagnosis was directly supported by metabolic screening.

Methods: We performed a retrospective chart review study of 164 patients under age one who had screening metabolic laboratory testing done within the time period of one calendar year. Read More

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http://dx.doi.org/10.1002/acn3.51076DOI Listing

Clinical implication of serum biomarkers and patient age in inflammatory demyelinating diseases.

Ann Clin Transl Neurol 2020 06 4;7(6):992-1001. Epub 2020 Jun 4.

Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.

Objectives: Serum synaptic proteins levels may change with age-related neurodegeneration, affecting their clinical implications as a disease biomarker. We aimed to investigate neuronal and astroglial markers in patients with multiple sclerosis (MS) and aquaporin-4 antibody-seropositive neuromyelitis optica spectrum disorders (NMOSD) to compare the clinical implications of these markers according to age.

Methods: Using single-molecule array assays, we measured neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in sera from consecutive patients with MS (n = 117) and NMOSD (n = 63). Read More

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http://dx.doi.org/10.1002/acn3.51070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317646PMC

Fc-gamma IIIa-V158F receptor polymorphism contributes to the severity of Guillain-Barré syndrome.

Ann Clin Transl Neurol 2020 06 2;7(6):1040-1049. Epub 2020 Jun 2.

Laboratory of Gut-Brain Signaling, Laboratory Sciences and Services Division (LSSD), icddr,b, Dhaka, 1212, Bangladesh.

Objective: Guillain-Barré syndrome (GBS) is a rare, life-threatening disorder of the peripheral nervous system. Immunoglobulin G Fc-gamma receptors (FcγRs) mediate and regulate diverse effector functions and are involved in the pathogenesis of GBS. We investigated whether the FcγR polymorphisms FcγRIIa H/R131 (rs1801274), FcγRIIIa V/F158 (rs396991), and FcγRIIIb NA1/NA2, and their haplotype patterns affect the affinity of IgG-FcγR interactivity and influence GBS susceptibility and severity. Read More

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http://dx.doi.org/10.1002/acn3.51072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317642PMC

Risk of incident autoimmune diseases in patients with thymectomy.

Ann Clin Transl Neurol 2020 Jun 1. Epub 2020 Jun 1.

Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.

Objectives: The data concerning the association between Tx and ADs remain unclear and are scarce. This study was undertaken to investigate whether people with Tx are more likely to develop ADs, compared to those without Tx.

Methods: Individuals who received Tx between 2002 and 2015 were identified and matched on age and sex with individuals without Tx. Read More

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http://dx.doi.org/10.1002/acn3.51055DOI Listing

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Ann Clin Transl Neurol 2020 06 29;7(6):911-923. Epub 2020 May 29.

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, PR. China.

Objective: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST-1 patients in mainland China.

Methods: We reported in detail the cases of five Chinese ST-1 patients from two centers, and summarized all worldwide cases. Read More

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http://dx.doi.org/10.1002/acn3.51058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318099PMC

Remote ischemic conditioning combined with intravenous thrombolysis for acute ischemic stroke.

Ann Clin Transl Neurol 2020 06 29;7(6):972-979. Epub 2020 May 29.

Department of Neurology, Stroke Center, The First Hospital of Jilin University, Chang Chun, Jilin, 130021, China.

Objective: The objective of this study was to investigate the safety and efficacy of remote ischemic conditioning (RIC) combined with intravenous thrombolysis (IVT) in the treatment of acute ischemic stroke (AIS).

Methods: Patients with AIS who underwent IVT were enrolled and 1:1 randomized to the RIC group and sham-RIC group in this study. RIC (or sham-RIC) was performed twice within 6-24 h of IVT. Read More

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http://dx.doi.org/10.1002/acn3.51063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318096PMC

Impaired cerebral autoregulation is associated with poststroke cognitive impairment.

Ann Clin Transl Neurol 2020 May 28. Epub 2020 May 28.

Department of Neurology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.

Objective: To investigate whether dynamic cerebral autoregulation (CA) and neuroimaging characteristics are determinants of poststroke cognitive impairment (PSCI).

Methods: Eighty patients within 7 days of acute ischemic stroke and 35 age- and sex-matched controls were enrolled. In the patients with stroke, brain magnetic resonance imaging and dynamic CA were obtained at baseline, and dynamic CA was followed up at 3 months and 1 year. Read More

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http://dx.doi.org/10.1002/acn3.51075DOI Listing

Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.

Ann Clin Transl Neurol 2020 06 27;7(6):965-971. Epub 2020 May 27.

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.

Objective: The NEK1 gene has been recently implicated in amyotrophic lateral sclerosis (ALS). This study aims to assess the influence of NEK1 variants on the occurrence of ALS and investigate the spectrum and clinical features of NEK1 loss-of-function (LOF) variants in a Taiwanese ALS cohort.

Methods: We screened 325 unrelated ALS patients for coding variants in NEK1 by targeted resequencing and queried the Taiwan Biobank database for NEK1 coding variants in 1000 Taiwanese healthy individuals. Read More

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http://dx.doi.org/10.1002/acn3.51064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318098PMC

Temporal association of sNfL and gad-enhancing lesions in multiple sclerosis.

Ann Clin Transl Neurol 2020 06 25;7(6):945-955. Epub 2020 May 25.

Harvard Medical School, Boston, Massachusetts, 02115, USA.

Objective: Multiple sclerosis (MS) is an autoimmune demyelinating disorder, which is characterized by relapses and remissions. Serum neurofilament light chain (sNfL) is an emerging biomarker of disease activity but its clinical use is still limited. In this study, we aim to characterize the temporal association between sNfL and new clinical relapses and new gadolinium-enhancing (Gd+) lesions. Read More

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http://dx.doi.org/10.1002/acn3.51060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318095PMC

Serum neurofilament light chain in FTLD: association with C9orf72, clinical phenotype, and prognosis.

Ann Clin Transl Neurol 2020 06 22;7(6):903-910. Epub 2020 May 22.

Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.

Objective: The aim of the present study was to compare the levels of serum neurofilament light chain (sNfL) in frontotemporal lobar degeneration (FTLD) patients of different clinical subtypes (bvFTD, PPA, and FTLD-MND) and with or without the C9orf72 repeat expansion, and to correlate sNfL levels to disease progression, assessed by the brain atrophy rate and survival time.

Methods: The sNfL levels were determined from 78 FTLD patients (C9orf72 repeat expansion carriers [n = 26] and non-carriers [n = 52]) with Single Molecule Array (SIMOA). The progression of brain atrophy was evaluated using repeated T1-weighted MRI scans and the survival time from medical records. Read More

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http://dx.doi.org/10.1002/acn3.51041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318100PMC

Early life metal dysregulation in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2020 06 21;7(6):872-882. Epub 2020 May 21.

Department of Environmental Medicine and Public Health, and Senator Frank Lautenberg Laboratory for Environmental Health Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Objective: Deficiencies and excess of essential elements and toxic metals are implicated in amyotrophic lateral sclerosis (ALS), but the age when metal dysregulation appears remains unknown. This study aims to determine whether metal uptake is dysregulated during childhood in individuals eventually diagnosed with ALS.

Methods: Laser ablation-inductively coupled plasma-mass spectrometry was used to obtain time series data of metal uptake using biomarkers in teeth from autopsies or dental extractions of ALS (n = 36) and control (n = 31) participants. Read More

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http://dx.doi.org/10.1002/acn3.51006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318091PMC

Reversing 21 years of chronic paralysis via non-invasive spinal cord neuromodulation: a case study.

Ann Clin Transl Neurol 2020 05 20;7(5):829-838. Epub 2020 May 20.

Department of Biomedical Engineering, The Hong Kong Polytechnic University, Kowloon, Hong Kong.

Objective: The objective of the current study was to investigate if a non-invasive spinal cord neuromodulation modality could restore sensorimotor functions in a patient with chronic spinal cord injury (SCI).

Methods: In this study, transcutaneous electrical stimulation (tES) to the spinal cord was utilized to restore sensorimotor functions in a chronic SCI patient who sustained a traumatic C7 cervical cord injury 21 years ago. At baseline, the patient had very limited volitional movement in her right leg, and her left leg was completely paralyzed. Read More

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http://dx.doi.org/10.1002/acn3.51051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261759PMC

Prolonged confusional state as first manifestation of COVID-19.

Ann Clin Transl Neurol 2020 May 20. Epub 2020 May 20.

Institute of Metabolism and System Research, Birmingham, B15 2TH, UK.

A 77-year-old gentleman, normally fit and well, was admitted with acute confusion. On admission, Glasgow Coma Scale (GCS) was 14/15, vital signs were within the normal limits and bilateral crepitation at the lung base. Head CT scan was normal. Read More

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http://dx.doi.org/10.1002/acn3.51067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276856PMC

CSF and serum ferritin levels in narcolepsy type 1 comorbid with restless legs syndrome.

Ann Clin Transl Neurol 2020 06 20;7(6):924-931. Epub 2020 May 20.

Sleep-Wake Disorders Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, Montpellier, France.

Objectives: To investigate whether cerebrospinal fluid (CSF) and serum ferritin levels differ between patients with narcolepsy type 1 (NT1) comorbid with restless legs syndrome (RLS) or periodic leg movements during sleep (PLMS), and patients with NT1 or controls without comorbid RLS or PLMS.

Methods: Sixty-six drug-free patients with NT1 (44 males, age 38.5 years [14-81]) were enrolled, including 20 with RLS, 18 with PLMS index ≥15/h (six with both RLS and PLMS). Read More

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http://dx.doi.org/10.1002/acn3.51056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317640PMC

Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.

Ann Clin Transl Neurol 2020 06 20;7(6):1061-1068. Epub 2020 May 20.

Department of Neurology, St. Josef Hospital, Ruhr-University, Bochum, Germany.

We report the case of a 27-year-old patient with subacute anti-neurofascin-155 neuropathy with bifacial palsy, who showed excellent response to rituximab. We provide longitudinal data of established clinical scores, nerve conduction studies, antibody titers, and novel imaging methods (nerve ultrasonography and corneal confocal microscopy). Clinical and electrophysiological improvement followed the reduction of serum antibody titer and correlated with a reduction of corneal inflammatory cellular infiltrates whereas the increase in the cross-sectional area of the peripheral nerves remained 12 months after first manifestation. Read More

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http://dx.doi.org/10.1002/acn3.51061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318093PMC

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Ann Clin Transl Neurol 2020 06 19;7(6):956-964. Epub 2020 May 19.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.

Background: RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different tissue types including the brain. However, mutations in the RAP1GDS1 gene associated with human diseases have not previously been reported. Read More

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http://dx.doi.org/10.1002/acn3.51059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318102PMC

Abolishing spontaneous epileptiform activity in human brain tissue through AMPA receptor inhibition.

Ann Clin Transl Neurol 2020 06 19;7(6):883-890. Epub 2020 May 19.

Aston Neuroscience Institute, School of Life and Health Sciences, Aston University, Birmingham, UK.

Objective: The amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is increasingly recognized as a therapeutic target in drug-refractory pediatric epilepsy. Perampanel (PER) is a non-competitive AMPAR antagonist, and pre-clinical studies have shown the AMPAR-mediated anticonvulsant effects of decanoic acid (DEC), a major medium-chain fatty acid provided in the medium-chain triglyceride ketogenic diet.

Methods: Using brain tissue resected from children with intractable epilepsy, we recorded the effects of PER and DEC in vitro. Read More

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http://dx.doi.org/10.1002/acn3.51030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318092PMC

Immune-mediated axonal dysfunction in seropositive and seronegative primary Sjögren's syndrome.

Ann Clin Transl Neurol 2020 05 15;7(5):819-828. Epub 2020 May 15.

Department of Neurology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.

Objective: The present study investigates the peripheral neuropathy in Primary Sjögren's syndrome (pSS) using the nerve excitability test to further elucidate how peripheral nerves are affected by the autoantibodies.

Methods: Each patient received clinical evaluation, examination for anti-SSA/Ro and anti-SSB/La antibodies titer, paired motor and sensory nerve excitability test, thermal quantitative sensory test (QST), and nerve conduction study (NCS).

Results: A total of 40 pSS patients wasenrolled. Read More

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http://dx.doi.org/10.1002/acn3.51053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261763PMC

De Novo Status Epilepticus in patients with COVID-19.

Ann Clin Transl Neurol 2020 May 14. Epub 2020 May 14.

Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.

Neurological complications are increasingly recognized with SARS-CoV-2, the causative pathogen for COVID-19. We present a single-center retrospective case series reporting the EEG and outcome of de novo status epilepticus (SE) in two African-American women with laboratory-confirmed SARS-CoV-2 virus. SE was the initial presentation in one asymptomatic individual. Read More

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http://dx.doi.org/10.1002/acn3.51071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273010PMC

Optic nerve sheath diameter ultrasonography for elevated intracranial pressure detection.

Ann Clin Transl Neurol 2020 05 7;7(5):865-868. Epub 2020 May 7.

Department of Neurology, The First Hospital of Jilin University, Changchun, China.

Ultrasonographically measured optic nerve sheath diameter measurement has become a common noninvasive approach for detecting elevated intracranial pressure. We present a case of aneurysmal subarachnoid hemorrhage with elevated intracranial pressure. Postoperative arachnoiditis developed, and lumbar puncture revealed low intracranial pressure. Read More

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http://dx.doi.org/10.1002/acn3.51054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261744PMC