Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.

abstract：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-bas...

journal_title：Annals of clinical and translational neurology

authors： Yoo HS,Chung SJ,Lee YH,Ye BS,Sohn YH,Kwon H,Lee PH

更新日期：2020-06-01 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：Objective:We aimed to investigate mutation-specific white matter (WM) integrity changes in presymptomatic and symptomatic mutation carriers of the C9orf72,MAPT, and GRN mutations by use of diffusion-weighted imaging within the Genetic Frontotemporal dementia Initiative (GENFI) study. Methods:One hundred and forty muta...

journal_title：Annals of clinical and translational neurology

authors： Jiskoot LC,Bocchetta M,Nicholas JM,Cash DM,Thomas D,Modat M,Ourselin S,Rombouts SARB,Dopper EGP,Meeter LH,Panman JL,van Minkelen R,van der Ende EL,Donker Kaat L,Pijnenburg YAL,Borroni B,Galimberti D,Masellis M,Tartagl

更新日期：2018-07-11 00:00:00

abstract：Objective:We aimed to evaluate the impact of underlying mechanism of basilar artery (BA) occlusion on the outcomes after endovascular therapy (EVT) for reperfusion and the outcome factors associated with each mechanism, and to identify radiologic parameters enabling to distinguish the underlying mechanism. Methods:Fro...

journal_title：Annals of clinical and translational neurology

authors： Lee WJ,Jung KH,Ryu YJ,Kim JM,Lee ST,Chu K,Kim M,Lee SK,Sohn CH,Roh JK

更新日期：2018-01-30 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：:To search for discriminating biomarkers, 30 patients with idiopathic rapid-eye-movements sleep behavior disorder (iRBD) were compared with 17 patients with RBD within narcolepsy type 1. Both groups underwent extensive examinations, including skin biopsy searching for phosphorylated α-synuclein deposits and whole-night...

journal_title：Annals of clinical and translational neurology

authors： Antelmi E,Pizza F,Donadio V,Filardi M,Sosero YL,Incensi A,Vandi S,Moresco M,Ferri R,Marelli S,Ferini-Strambi L,Liguori R,Plazzi G

更新日期：2019-09-01 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:Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothes...

journal_title：Annals of clinical and translational neurology

authors： Narita A,Shirai K,Itamura S,Matsuda A,Ishihara A,Matsushita K,Fukuda C,Kubota N,Takayama R,Shigematsu H,Hayashi A,Kumada T,Yuge K,Watanabe Y,Kosugi S,Nishida H,Kimura Y,Endo Y,Higaki K,Nanba E,Nishimura Y,Tamasa

更新日期：2016-02-02 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:There is no consensus on the treatment of progressive multifocal leukoencephalopathy (PML) occurring in multiple sclerosis (MS) patients treated with natalizumab (Nz). We report novel immune activating treatment with filgrastim of Nz-associated PML in MS patients treated at Rush University Medical Center. Me...

journal_title：Annals of clinical and translational neurology

authors： Stefoski D,Balabanov R,Waheed R,Ko M,Koralnik IJ,Sierra Morales F

更新日期：2019-04-08 00:00:00

abstract：OBJECTIVE:Brain connectivity at rest is altered in temporal lobe epilepsy (TLE), particularly in "hub" areas such as the posterior default mode network (DMN). Although both functional and anatomical connectivity are disturbed in TLE, the relationships between measures as well as to seizure frequency remain unclear. We ...

journal_title：Annals of clinical and translational neurology

authors： Douw L,DeSalvo MN,Tanaka N,Cole AJ,Liu H,Reinsberger C,Stufflebeam SM

更新日期：2015-04-01 00:00:00

abstract：:Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CA...

journal_title：Annals of clinical and translational neurology

authors： Frederick A,Sherer K,Nguyen L,Ali S,Garg A,Haas R,Sahagian M,Bui J

更新日期：2021-01-01 00:00:00

abstract：:The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi-catalytic protein involved in the removal of single strand DNA during mtDNA replic...

journal_title：Annals of clinical and translational neurology

authors： Ronchi D,Liu C,Caporali L,Piga D,Li H,Tagliavini F,Valentino ML,Ferrò MT,Bini P,Zheng L,Carelli V,Shen B,Comi GP

更新日期：2019-09-01 00:00:00

abstract：OBJECTIVE:Analysis of the T-cell receptor (TCR) repertoire in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS) can reveal antigen-specific immune responses potentially implicated in the disease process. We applied a new unbiased deep-sequencing method for TCR repertoire analysis to accurately meas...

journal_title：Annals of clinical and translational neurology

authors： de Paula Alves Sousa A,Johnson KR,Nicholas R,Darko S,Price DA,Douek DC,Jacobson S,Muraro PA

更新日期：2016-04-20 00:00:00

abstract：INTRODUCTION:Many patients suffering from migraine gain little relief from existing treatments partly because many existing acute and preventive therapies used in migraine have been adopted from other neurologic conditions such as depression or epilepsy. Here, we present data supporting a new migraine-specific target, ...

journal_title：Annals of clinical and translational neurology

authors： Waung MW,Akerman S,Wakefield M,Keywood C,Goadsby PJ

更新日期：2016-07-01 00:00:00

abstract：:Prenatal exposure to sodium valproate (VPA) is associated with neurodevelopmental impairments. Cortical thickness was measured in 16 children exposed prenatally to VPA and 16 controls. We found increased left inferior frontal gyrus (IFG; BA45) and left pericalcarine sulcus (BA18) thickness, an association between VPA ...

journal_title：Annals of clinical and translational neurology

authors： Wood AG,Chen J,Barton S,Nadebaum C,Anderson VA,Catroppa C,Reutens DC,O'Brien TJ,Vajda F

更新日期：2014-07-01 00:00:00

abstract：OBJECTIVES:The distribution of pathology in neurodegenerative disease can be predicted by the organizational characteristics of white matter in healthy brains. However, we have very little evidence for the impact these pathological changes have on brain function. Understanding any such link between structure and functi...

journal_title：Annals of clinical and translational neurology

authors： McColgan P,Gregory S,Razi A,Seunarine KK,Gargouri F,Durr A,Roos RA,Leavitt BR,Scahill RI,Clark CA,Tabrizi SJ,Rees G,Track On‐HD Investigators.,Coleman A,Decolongon J,Fan M,Petkau T,Jauffret C,Justo D,Lehericy S,Ni

更新日期：2017-01-16 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: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:The precise pathogenesis or neural correlates underlying levodopa-induced dyskinesia (LID) remains poorly understood. There is growing evidence of the involvement of the cerebellum in Parkinson's disease (PD). The present study evaluated the role of motor cerebellar connectivity in determining vulnerability t...

journal_title：Annals of clinical and translational neurology

authors： Yoo HS,Choi YH,Chung SJ,Lee YH,Ye BS,Sohn YH,Lee JM,Lee PH

更新日期：2019-11-01 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：: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: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:Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy ( CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544...

journal_title：Annals of clinical and translational neurology

authors： Tang SC,Chen YR,Chi NF,Chen CH,Cheng YW,Hsieh FI,Hsieh YC,Yeh HL,Sung PS,Hu CJ,Chern CM,Lin HJ,Lien LM,Peng GS,Chiou HY,Jeng JS

更新日期：2018-11-20 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：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: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 u...

journal_title：Annals of clinical and translational neurology

authors： Varhaug KN,Nido GS,de Coo I,Isohanni P,Suomalainen A,Tzoulis C,Knappskog P,Bindoff LA

更新日期：2020-08-01 00:00:00

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：Objective:Clinical assessment of auditory attention in patients with disorders of consciousness is often limited by motor impairment. Here, we employ intersubject correlations among electroencephalography responses to naturalistic speech in order to assay auditory attention among patients and healthy controls. Methods...

journal_title：Annals of clinical and translational neurology

authors： Iotzov I,Fidali BC,Petroni A,Conte MM,Schiff ND,Parra LC

更新日期：2017-09-27 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