Impact of stroke mechanism in acute basilar occlusion with reperfusion therapy.

abstract：OBJECTIVE:Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant screening relies predominantly on induced seizure models. However, these models may ...

journal_title：Annals of clinical and translational neurology

authors： Hawkins NA,Anderson LL,Gertler TS,Laux L,George AL Jr,Kearney JA

更新日期：2017-04-26 00:00:00

abstract：Objective:Immunological studies have demonstrated a plethora of beneficial effects of dimethyl fumarate (DMF) on various cell types. However, the cellular and molecular targets are incompletely understood and response markers are scarce. Here, we focus on the relation between nuclear factor (erythroid-derived 2)-like 2...

journal_title：Annals of clinical and translational neurology

authors： Hammer A,Waschbisch A,Kuhbandner K,Bayas A,Lee DH,Duscha A,Haghikia A,Gold R,Linker RA

更新日期：2018-04-16 00:00:00

abstract：:We demonstrate the first use of Optically Pumped Magnetoencephalography (OP-MEG) in an epilepsy patient with unrestricted head movement. Current clinical MEG uses a traditional SQUID system, where sensors are cryogenically cooled and housed in a helmet in which the patient's head is fixed. Here, we use a different typ...

journal_title：Annals of clinical and translational neurology

authors： Vivekananda U,Mellor S,Tierney TM,Holmes N,Boto E,Leggett J,Roberts G,Hill RM,Litvak V,Brookes MJ,Bowtell R,Barnes GR,Walker MC

更新日期：2020-03-01 00:00:00

abstract：:Radiation necrosis mostly occurs in and near the radiation field. We used magnetic resonance imaging to study radiation-induced necrosis of atypical onset, severity, and extent following stereotactic radiosurgery for a symptomatic arteriovenous malformation. Susceptibility-sensitive imaging, T1-relaxation, myelin wate...

journal_title：Annals of clinical and translational neurology

authors： Wiggermann V,Lapointe E,Litvin L,Graf C,Hernández-Torres E,McKenzie M,Vavasour IM,Laule C,MacMillan EL,Li DKB,Kolind SH,Rauscher A,Traboulsee AL

更新日期：2018-12-10 00:00:00

abstract：BACKGROUND:Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates that their genetic background is heterogeneous. PATIENT AND METHODS:In this w...

journal_title：Annals of clinical and translational neurology

authors： Marcos AT,Martín-Doncel E,Morejón-García P,Marcos-Alcalde I,Gómez-Puertas P,Segura-Puimedon M,Armengol L,Navarro-Pando JM,Lazo PA

更新日期：2020-05-01 00:00:00

abstract：OBJECTIVE:Serum neurofilament light (sNfL) is a promising new biomarker in multiple sclerosis (MS). We explored the relationship between sNfL and health outcomes and resource use in MS patients. METHODS:MS patients with serum samples and health-outcome measurements collected longitudinally between 2011 and 2016 were a...

journal_title：Annals of clinical and translational neurology

authors： Galetta K,Deshpande C,Healy BC,Glanz B,Ziehn M,Saxena S,Paul A,Saleh F,Collins M,Gaitan-Walsh P,Castro-Mendoza P,Weiner HL,Chitnis T

更新日期：2021-01-25 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：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：:FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). METHODS:We investigated the disease molecular bases in a child with PPS and brain iron accumulation. RESULTS:A novel homozygous c.368C>G (p.S123*) FBXO7...

journal_title：Annals of clinical and translational neurology

authors： Correa-Vela M,Lupo V,Montpeyó M,Sancho P,Marcé-Grau A,Hernández-Vara J,Darling A,Jenkins A,Fernández-Rodríguez S,Tello C,Ramírez-Jiménez L,Pérez B,Sánchez-Montáñez Á,Macaya A,Sobrido MJ,Martinez-Vicente M,Pérez-Dueñas B,

更新日期：2020-08-01 00:00:00

abstract：:Three fundamental principals associated with aquatic therapy differentiate it with respect to exercise on land, and in air. These are buoyancy (reduction in weight of the body within the buoyant medium of water), viscosity (a "drag force" is generated when moving within water, when compared with the same movement in a...

journal_title：Annals of clinical and translational neurology

authors： Frohman AN,Okuda DT,Beh S,Treadaway K,Mooi C,Davis SL,Shah A,Frohman TC,Frohman EM

更新日期：2015-08-01 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：OBJECTIVE:The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS). METHODS:We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was used to search for causal mutations. In silic...

journal_title：Annals of clinical and translational neurology

authors： Kevelam SH,Taube JR,van Spaendonk RM,Bertini E,Sperle K,Tarnopolsky M,Tonduti D,Valente EM,Travaglini L,Sistermans EA,Bernard G,Catsman-Berrevoets CE,van Karnebeek CD,Østergaard JR,Friederich RL,Fawzi Elsaid M,Schieving J

更新日期：2015-06-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and efficacy of a plasmid (VM202) containing two human hepatocyte growth factor isoforms given by intramuscular injections in patients with painful diabetic neuropathy. METHODS:In a double-blind, placebo-controlled study, patients were randomized to receive injections of 8 or 16 mg VM2...

journal_title：Annals of clinical and translational neurology

authors： Kessler JA,Smith AG,Cha BS,Choi SH,Wymer J,Shaibani A,Ajroud-Driss S,Vinik A,VM202 DPN-II Study Group.

更新日期：2015-05-01 00:00:00

abstract：:Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and end...

journal_title：Annals of clinical and translational neurology

authors： Roda RH,Schindler AB,Blackstone C,Mammen AL,Corse AM,Lloyd TE

更新日期：2014-12-01 00:00:00

abstract：Background:There is currently no formal method for predicting the range expected in an individual's seizure counts. Having access to such a prediction would be of benefit for developing more efficient clinical trials, but also for improving clinical care in the outpatient setting. Methods:Using three independently col...

journal_title：Annals of clinical and translational neurology

authors： Goldenholz DM,Goldenholz SR,Moss R,French J,Lowenstein D,Kuzniecky R,Haut S,Cristofaro S,Detyniecki K,Hixson J,Karoly P,Cook M,Strashny A,Theodore WH

更新日期：2018-01-09 00:00:00

abstract：OBJECTIVE:To examine how urate concentrations are related to the risk of having possible REM sleep behavior disorder (pRBD) in a community-based cohort. METHODS:The study included 12,923 Chinese adults of the Kailuan Study, free of Parkinson disease (PD) and dementia. Plasma urate concentrations were measured in 2006,...

journal_title：Annals of clinical and translational neurology

authors： Shen Y,Li J,Schwarzschild M,Pavlova M,He S,Ascherio A,Wu S,Cui L,Gao X

更新日期：2019-12-01 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:Pathogenesis in facioscapulohumeral muscular dystrophy (FSHD) appears to be due to aberrant expression, particularly in skeletal muscle nuclei, of the full-length isoform of DUX4 (DUX4-FL). Expression of DUX4-FL is known to alter gene expression and to be cytotoxic, but cell responses to DUX4-FL are not fully...

journal_title：Annals of clinical and translational neurology

authors： Homma S,Beermann ML,Boyce FM,Miller JB

更新日期：2015-02-01 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:The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of ...

journal_title：Annals of clinical and translational neurology

authors： Wagnon JL,Barker BS,Hounshell JA,Haaxma CA,Shealy A,Moss T,Parikh S,Messer RD,Patel MK,Meisler MH

更新日期：2015-12-21 00:00:00

abstract：OBJECTIVE:To evaluate the CSF levels of chitinase proteins during the presymptomatic and early symptomatic phases of amyotrophic lateral sclerosis (ALS). METHODS:CSF samples were obtained from 16 controls, 55 individuals at-risk for ALS (including 18 carrying a mutation in C9ORF72, 33 in SOD1), 12 ALS patients, and 7 ...

journal_title：Annals of clinical and translational neurology

authors： Gray E,Thompson AG,Wuu J,Pelt J,Talbot K,Benatar M,Turner MR

更新日期：2020-08-01 00:00:00

abstract：:A 61-year-old man with past medical history significant for prediabetes, hyperlipidemia and high-grade prostate intraepithelial neoplasia presents with headaches for one month. Imaging of his brain reveals hydrocephalus and spine imaging reveals a cord lesion. These findings are discussed further in the case. ...

journal_title：Annals of clinical and translational neurology

authors： Yu M,Brooker S,Priyadarshini S

更新日期：2020-12-18 00:00:00

abstract：OBJECTIVE:Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients,...

journal_title：Annals of clinical and translational neurology

authors： Auvin S,Dozières-Puyravel B,Avbersek A,Sciberras D,Collier J,Leclercq K,Mares P,Kaminski RM,Muglia P

更新日期：2020-03-01 00:00:00

abstract：OBJECTIVES:Diabetes leads to cognitive impairment and is associated with age-related neurodegenerative diseases including Alzheimer's disease (AD). Thus, understanding diabetes-induced alterations in brain function is important for developing early interventions for neurodegeneration. Low-capacity runner (LCR) rats are...

journal_title：Annals of clinical and translational neurology

authors： Choi J,Chandrasekaran K,Demarest TG,Kristian T,Xu S,Vijaykumar K,Dsouza KG,Qi NR,Yarowsky PJ,Gallipoli R,Koch LG,Fiskum GM,Britton SL,Russell JW

更新日期：2014-08-01 00:00:00

abstract：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 ...

journal_title：Annals of clinical and translational neurology

authors： Rosso M,Gonzalez CT,Healy BC,Saxena S,Paul A,Bjornevik K,Kuhle J,Benkert P,Leppert D,Guttmann C,Bakshi R,Weiner HL,Chitnis T

更新日期：2020-06-01 00:00:00

abstract：:Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in b...

journal_title：Annals of clinical and translational neurology

authors： Wang Y,Best A,Fernández-Torrón R,Alsaggaf R,Garcia-Puga M,Dagnall CL,Hicks B,Thompson M,Matheu Fernandez A,Zulaica Ijurco M,Greene MH,Lopez de Munain A,Gadalla SM

更新日期：2020-01-01 00:00:00

abstract：Objective:Limited attention has been given to ocular injuries associated with traumatic brain injury (TBI). The retina is an extension of the central nervous system and evaluation of ocular damage may offer a less-invasive approach to gauge TBI severity and response to treatment. We aim to characterize acute changes in...

journal_title：Annals of clinical and translational neurology

authors： Evans LP,Newell EA,Mahajan M,Tsang SH,Ferguson PJ,Mahoney J,Hue CD,Vogel EW 3rd,Morrison B 3rd,Arancio O,Nichols R,Bassuk AG,Mahajan VB

更新日期：2018-02-26 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：:We examined the expression of IL-33 as an indicator of an innate immune response in relapsing remitting MS (RRMS) and controls. Based on our previous studies we proposed a link between the expression of IL-33 and IL-33 regulated genes to histone deacetylase (HDAC) activity and in particular HDAC3, an enzyme that plays...

journal_title：Annals of clinical and translational neurology

authors： Zhang F,Tossberg JT,Spurlock CF,Yao SY,Aune TM,Sriram S

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:To investigate the effects of leptin on different T-cell populations, in order to gain more insight into the link between leptin and obesity. METHODS:Three hundred and nine RRMS patients and 322 controls participated in a cross-sectional survey, to confirm whether excess weight/obesity in adolescence or earl...

journal_title：Annals of clinical and translational neurology

authors： Marrodan M,Farez MF,Balbuena Aguirre ME,Correale J

更新日期：2020-12-28 00:00:00