Rho-kinase inhibitors do not expand hematoma volume in acute experimental intracerebral hemorrhage.

abstract：OBJECTIVE:Trinucleotide GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study ...

journal_title：Annals of clinical and translational neurology

authors： Fang P,Yu Y,Yao S,Chen S,Zhu M,Chen Y,Zou K,Wang L,Wang H,Xin L,Hong T,Hong D

更新日期：2020-04-01 00:00:00

abstract：:The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole-exome sequencing and next-generation sequencing-based ge...

journal_title：Annals of clinical and translational neurology

authors： Gonorazky H,Liang M,Cummings B,Lek M,Micallef J,Hawkins C,Basran R,Cohn R,Wilson MD,MacArthur D,Marshall CR,Ray PN,Dowling JJ

更新日期：2015-12-08 00:00:00

abstract：OBJECTIVE:Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in tw...

journal_title：Annals of clinical and translational neurology

authors： Panjwani N,Wilson MD,Addis L,Crosbie J,Wirrell E,Auvin S,Caraballo RH,Kinali M,McCormick D,Oren C,Taylor J,Trounce J,Clarke T,Akman CI,Kugler SL,Mandelbaum DE,McGoldrick P,Wolf SM,Arnold P,Schachar R,Pal DK,Stru

更新日期：2016-06-02 00:00:00

abstract：OBJECTIVE:The mechanism of action of anti-B cell therapy in multiple sclerosis (MS) is not fully understood. Here, we compared the effect of anti-CD20 therapy on microglial activation in two distinct focal rat models of MS. METHODS:The effect of anti-CD20 therapy on lesion formation and extralesional microglial activa...

journal_title：Annals of clinical and translational neurology

authors： Anthony DC,Dickens AM,Seneca N,Couch Y,Campbell S,Checa B,Kersemans V,Warren EA,Tredwell M,Sibson NR,Gouverneur V,Leppert D

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:Examine whether cognitive reserve moderates the association of 1) vascular risk factors and 2) white matter hyperintensity burden with risk of clinical progression and longitudinal cognitive decline. METHODS:BIOCARD Study participants were cognitively normal and primarily middle-aged (M = 57 years) at baseli...

journal_title：Annals of clinical and translational neurology

authors： Soldan A,Pettigrew C,Zhu Y,Wang MC,Gottesman RF,DeCarli C,Albert M,BIOCARD Research Team.

更新日期：2020-08-01 00:00:00

abstract：OBJECTIVE:To compare the values of arterial spin-labeled (ASL) MRI and fluorodeoxyglucose (FDG) PET in the diagnosis of behavioral variant of frontotemporal dementia (bvFTD) and Alzheimer's disease (AD). METHODS:Partial least squares logistic regression was used to identify voxels with diagnostic value in cerebral blo...

journal_title：Annals of clinical and translational neurology

authors： Tosun D,Schuff N,Rabinovici GD,Ayakta N,Miller BL,Jagust W,Kramer J,Weiner MM,Rosen HJ

更新日期：2016-08-30 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is a heterogenous, inflammatory disease of the central nervous system. Microbiota alterations in MS versus healthy controls (HC) are observed, but results are inconsistent. We studied diversity, enterotypes, and specific gut microbial taxa variation between MS and HC, and between MS su...

journal_title：Annals of clinical and translational neurology

authors： Reynders T,Devolder L,Valles-Colomer M,Van Remoortel A,Joossens M,De Keyser J,Nagels G,D'hooghe M,Raes J

更新日期：2020-04-01 00:00:00

abstract：Objective:The objective of this study was to evaluate the thrombus characteristics affecting the extent of recanalization to identify patients with severe cerebral venous sinus thrombus (CVT) more likely to benefit from endovascular therapy. Methods:Severe CVT patients scheduled for endovascular treatment were prospec...

journal_title：Annals of clinical and translational neurology

authors： Yang X,Wu F,Liu Y,Duan J,Meng R,Chen J,Li D,Fan Z,Fisher M,Yang Q,Ji X

更新日期：2019-03-07 00:00:00

abstract：OBJECTIVE:Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants o...

journal_title：Annals of clinical and translational neurology

authors： Naeije G,Wens V,Coquelet N,Sjøgård M,Goldman S,Pandolfo M,De Tiège XP

更新日期：2020-01-01 00:00:00

abstract：:Aicardi-Goutières syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-α. The relation between interferon-α and brain pathology is poorly understood. We report a patient with mutations in the disease-associated gene SAMHD1. Neuropathology showed an extensive microangiopath...

journal_title：Annals of clinical and translational neurology

authors： Klok MD,Bakels HS,Postma NL,van Spaendonk RM,van der Knaap MS,Bugiani M

更新日期：2015-07-01 00:00:00

abstract：Objective:FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Method...

journal_title：Annals of clinical and translational neurology

authors： Pringsheim M,Mitter D,Schröder S,Warthemann R,Plümacher K,Kluger G,Baethmann M,Bast T,Braun S,Büttel HM,Conover E,Courage C,Datta AN,Eger A,Grebe TA,Hasse-Wittmer A,Heruth M,Höft K,Kaindl AM,Karch S,Kautzky T,Ko

更新日期：2019-03-03 00:00:00

abstract：Objective:The prognostic value of cerebrospinal fluid neurofilament light chain, total tau, phosphorylated tau181, and amyloid beta1-42 was examined in frontotemporal dementia subtypes. Methods:We compared baseline biomarkers between 49 controls, 40 patients with behavioral variant frontotemporal dementia, 24 with sem...

journal_title：Annals of clinical and translational neurology

authors： Ljubenkov PA,Staffaroni AM,Rojas JC,Allen IE,Wang P,Heuer H,Karydas A,Kornak J,Cobigo Y,Seeley WW,Grinberg LT,Spina S,Fagan AM,Jerome G,Knopman D,Boeve BF,Dickerson BC,Kramer J,Miller B,Boxer AL,Rosen HJ

更新日期：2018-09-20 00:00:00

abstract：:Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, ...

journal_title：Annals of clinical and translational neurology

authors： Li J

更新日期：2017-06-15 00:00:00

abstract：:Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of t...

journal_title：Annals of clinical and translational neurology

authors： Antenora A,Rinaldi C,Roca A,Pane C,Lieto M,Saccà F,Peluso S,De Michele G,Filla A

更新日期：2017-08-10 00:00:00

abstract：Objective:To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. Methods:Using a prospective case-control design, we compared cognition of patients to normative data and to matched controls, assessed three times over 18 months. Forty-nine patie...

journal_title：Annals of clinical and translational neurology

authors： Moore HL,Kelly T,Bright A,Field RH,Schaefer AM,Blain AP,Taylor RW,McFarland R,Turnbull DM,Gorman GS

更新日期：2019-03-27 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is a disease of the central nervous system with marked heterogeneity in several aspects including pathological processes. Based on infiltrating immune cells, deposition of humoral factors and loss of oligodendrocytes and/or myelin proteins, four lesion patterns have been described. Pat...

journal_title：Annals of clinical and translational neurology

authors： Planas R,Metz I,Ortiz Y,Vilarrasa N,Jelčić I,Salinas-Riester G,Heesen C,Brück W,Martin R,Sospedra M

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype-genotype relationship. METHODS:Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atro...

journal_title：Annals of clinical and translational neurology

authors： Tian WT,Liu LH,Zhou HY,Zhang C,Zhan FX,Zhu ZY,Chen SD,Luan XH,Cao L

更新日期：2020-02-01 00:00:00

abstract：:Rebound disease following cessation of disease modifying treatment (DMT) has been reported in people with both relapsing and progressive multiple sclerosis (pwRMS, pwPMS) questioning strict separation between these two phenotypes. While licensed DMT is available for pwRMS to counter rebound disease, no such option exi...

journal_title：Annals of clinical and translational neurology

authors： Alvarez-Gonzalez C,Adams A,Mathews J,Turner BP,Giovannoni G,Baker D,Schmierer K

更新日期：2017-05-17 00:00:00

abstract：Background and Objective:Hispanics with multiple sclerosis (MS) present younger and more often with optic neuritis (ON) as compared to Whites in the western United States. Regional differences related to Hispanic genetic admixture could be responsible. We investigated the association between global genetic ancestry and...

journal_title：Annals of clinical and translational neurology

authors： Amezcua L,Beecham AH,Delgado SR,Chinea A,Burnett M,Manrique CP,Gomez R,Comabella M,Montalban X,Ortega M,Tornes L,Lund BT,Islam T,Conti D,Oksenberg JR,McCauley JL

更新日期：2018-09-23 00:00:00

abstract：INTRODUCTION:Multiple sclerosis (MS) is an enigmatic autoimmune-driven inflammatory/demyelinating disease of the human central nervous system (CNS), affecting brain, spinal cord, and optic nerves. The cause of the disease is not known and the number of effective treatments is limited. Despite some clear successes, tran...

journal_title：Annals of clinical and translational neurology

authors： 't Hart BA,van Kooyk Y,Geurts JJ,Gran B

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVE:Human T-cell leukemia virus-1 (HTLV-1) associated myelopathy/tropic spastic paraparesis (HAM/TSP) is induced by chronic inflammation in spinal cord due to HTLV-1 infection. Cerebrospinal fluid (CSF) neopterin or proviral load are clinically measured as disease grading biomarkers, however, they are not exactly...

journal_title：Annals of clinical and translational neurology

authors： Ishihara M,Araya N,Sato T,Saichi N,Fujii R,Yamano Y,Ueda K

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVE:To evaluate whether structural and microstructural brain abnormalities in neonates with congenital heart disease (CHD) correlate with neuronal network dysfunction measured by analysis of EEG connectivity. METHODS:We studied a prospective cohort of 20 neonates with CHD who underwent continuous EEG monitoring ...

journal_title：Annals of clinical and translational neurology

authors： Birca A,Vakorin VA,Porayette P,Madathil S,Chau V,Seed M,Doesburg SM,Blaser S,Nita DA,Sharma R,Duerden EG,Hickey EJ,Miller SP,Hahn CD

更新日期：2016-08-14 00:00:00

abstract：:To confirm the diagnostic accuracy of candidate biomarkers in stroke-associated pneumonia (SAP), we prospectively enrolled ischemic stroke patients with NIHSS ≥ 10 on admission from March-2016 to August-2017. Blood samples were collected at baseline, 24 and 48 h after stroke onset. Biomarkers (MR-proADM, suPAR, SAA) w...

journal_title：Annals of clinical and translational neurology

authors： Zapata-Arriaza E,Mancha F,Bustamante A,Moniche F,Pardo-Galiana B,Serrano-Gotarredona P,Navarro-Herrero S,Pallisa E,Faura J,Vega-Salvatierra Á,Penalba A,Escudero-Martínez I,Ramos-Herrero VD,Azurmendi L,Charles Sanchez J,Mont

更新日期：2019-09-01 00:00:00

abstract：:Many observations suggest that mutations of mitochondrial DNA (mtDNA) could be responsible for the neurodegenerative changes of Alzheimer's disease (AD). Here we examined the signal intensity of the four alleles of each mtDNA nucleotide position (np) in whole blood of AD patients and age-matched controls using MitoChi...

journal_title：Annals of clinical and translational neurology

authors： Casoli T,Di Stefano G,Spazzafumo L,Balietti M,Giorgetti B,Giuli C,Postacchini D,Fattoretti P,Conti F

更新日期：2014-04-01 00:00:00

abstract：:We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients, with respiratory mus...

journal_title：Annals of clinical and translational neurology

authors： Dawson C,Ramachandran R,Safdar S,Murphy E,Swayne O,Katz J,Newsome PN,Geberhiwot T

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:Pathogenic variants in SCN8A, encoding the voltage-gated sodium (Na+) channel α subunit Nav1.6, is a known cause of epilepsy. Here, we describe clinical and genetic features of all patients with SCN8A epilepsy evaluated at a single-tertiary care center, with biophysical data on identified Nav1.6 variants and ...

journal_title：Annals of clinical and translational neurology

authors： Zaman T,Abou Tayoun A,Goldberg EM

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVE:To assess the predictive potential of the complete response pattern from the University of Pennsylvania Smell Identification Test for the diagnosis of Parkinson's disease. METHODS:We analyzed a large dataset from the Arizona Study of Aging and Neurodegenerative Disorders, a longitudinal clinicopathological s...

journal_title：Annals of clinical and translational neurology

authors： Gerkin RC,Adler CH,Hentz JG,Shill HA,Driver-Dunckley E,Mehta SH,Sabbagh MN,Caviness JN,Dugger BN,Serrano G,Belden C,Smith BH,Sue L,Davis KJ,Zamrini E,Beach TG

更新日期：2017-09-08 00:00:00

abstract：:Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self-limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3'UTR of STIM2 gene. STIM2 was overexpressed in the...

journal_title：Annals of clinical and translational neurology

authors： Crippa M,Malatesta P,Bonati MT,Trapasso F,Fortunato F,Annesi G,Larizza L,Labate A,Finelli P,Perrotti N,Gambardella A

更新日期：2020-05-01 00:00:00

abstract：OBJECTIVE:Cancer patients may experience neurologic adverse effects, such as alterations in neurocognitive function, as a consequence of chemotherapy. The mechanisms underlying such neurotoxic syndromes remain poorly understood. We here describe the temporal and regional effects of systemically administered platinum-ba...

journal_title：Annals of clinical and translational neurology

authors： Horky LL,Gerbaudo VH,Zaitsev A,Plesniak W,Hainer J,Govindarajulu U,Kikinis R,Dietrich J

更新日期：2014-10-01 00:00:00

abstract：OBJECTIVE:Several single-nucleotide polymorphisms (SNPs) are associated with restless legs syndrome (RLS). This study investigated whether or not additional SNP variants increase the risk of RLS in migraineurs and in migraine with aura (MA) and migraine without aura (MoA) subgroups. METHODS:Migraineurs with and withou...

journal_title：Annals of clinical and translational neurology

authors： Lin GY,Lin YK,Liang CS,Lee JT,Tsai CL,Hung KS,Luo WJ,Tsai CK,Hsu YW,Ho TH,Yang FC

更新日期：2020-10-01 00:00:00