Interplay of brain structure and function in neonatal congenital heart disease.

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：: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: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. M...

journal_title：Annals of clinical and translational neurology

authors： Lin Y,Ji K,Ma X,Liu S,Li W,Zhao Y,Yan C

更新日期：2020-07-01 00:00:00

abstract：OBJECTIVES:To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS:Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was...

journal_title：Annals of clinical and translational neurology

authors： Chou CT,Soong BW,Lin KP,Tsai YS,Jih KY,Liao YC,Lee YC

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:Brain involvement is a serious complication of HIV infection. The earliest changes in the brain, which represents an anatomic site for viral persistence, are largely unknown. METHODS:This investigation used quantitative Magnetic Resonance methodologies, including high resolution and diffusion tensor (DTI) im...

journal_title：Annals of clinical and translational neurology

authors： Ragin AB,Wu Y,Gao Y,Keating S,Du H,Sammet C,Kettering CS,Epstein LG

更新日期：2015-01-01 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: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: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: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：: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：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：:Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort....

journal_title：Annals of clinical and translational neurology

authors： Yuan RY,Ye ZL,Zhang XR,Xu LQ,He J

更新日期：2021-01-01 00:00:00

abstract：OBJECTIVE:Accurate representation of final infarct volume is essential for assessing the efficacy of stroke interventions in imaging-based studies. This study defines the impact of image registration methods used at different timepoints following stroke, and the implications for infarct definition in stroke research. ...

journal_title：Annals of clinical and translational neurology

authors： Harston GW,Minks D,Sheerin F,Payne SJ,Chappell M,Jezzard P,Jenkinson M,Kennedy J

更新日期：2017-01-20 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: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：: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：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：: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：OBJECTIVE:Electroencephalography (EEG) features in the alpha band have been shown to differ between people with epilepsy and healthy controls. Here, in a group of patients with mesial temporal lobe epilepsy (mTLE), we seek to confirm these EEG features, and using simultaneous functional magnetic resonance imaging, we i...

journal_title：Annals of clinical and translational neurology

authors： Yaakub SN,Tangwiriyasakul C,Abela E,Koutroumanidis M,Elwes RDC,Barker GJ,Richardson MP

更新日期：2020-05-01 00:00:00

abstract：Introduction:It is unknown if treatment with rt-PA in mild acute ischemic stroke (MIS) is associated with improvement in long term cognition. Methods:Forty-five patients with suspected acute mild stroke or transient ischemic attacks with NIHSS ≤6 were enrolled in a prospective cohort. Cognitive testing was performed w...

journal_title：Annals of clinical and translational neurology

authors： Rosenbaum Halevi D,Bursaw AW,Karamchandani RR,Alderman SE,Breier JI,Vahidy FS,Aden JK,Cai C,Zhang X,Savitz SI

更新日期：2019-01-22 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 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：BACKGROUND:Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most comm...

journal_title：Annals of clinical and translational neurology

authors： Sedghi M,Moslemi AR,Olive M,Etemadifar M,Ansari B,Nasiri J,Emrahi L,Mianesaz HR,Laing NG,Tajsharghi H

更新日期：2019-11-01 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：OBJECTIVE:The neuropathogenesis of postoperative delirium remains unknown. Low cerebrospinal fluid (CSF) βamyloid protein (Aβ) and high CSF Tau levels are associated with Alzheimer's disease. We therefore assessed whether lower preoperative CSF Aβ/Tau ratio was associated with higher incidence and greater severity of p...

journal_title：Annals of clinical and translational neurology

authors： Xie Z,Swain CA,Ward SA,Zheng H,Dong Y,Sunder N,Burke DW,Escobar D,Zhang Y,Marcantonio ER

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVES:Isradipine is a dihydropyridine calcium channel inhibitor that has demonstrated concentration-dependent neuroprotective effects in animal models of Parkinson's disease (PD) but failed to show efficacy in a phase 3 clinical trial. The objectives of this study were to model the plasma pharmacokinetics of israd...

journal_title：Annals of clinical and translational neurology

authors： Venuto CS,Yang L,Javidnia M,Oakes D,James Surmeier D,Simuni T

更新日期：2021-01-18 00:00:00

abstract：Objective:The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify and characterize the frequency and impact ...

journal_title：Annals of clinical and translational neurology

authors： Raghavan NS,Brickman AM,Andrews H,Manly JJ,Schupf N,Lantigua R,Wolock CJ,Kamalakaran S,Petrovski S,Tosto G,Vardarajan BN,Goldstein DB,Mayeux R,Alzheimer's Disease Sequencing Project.

更新日期：2018-05-24 00:00:00

abstract：BACKGROUND:Frontotemporal dementia (FTD) is associated with complex changes in eating behavior and metabolism, which potentially affect disease pathogenesis and survival. It is currently not known if body composition changes and changes in fat deposition also exist in FTD, the relationship of these changes in eating be...

journal_title：Annals of clinical and translational neurology

authors： Ahmed RM,Landin-Romero R,Liang CT,Keogh JM,Henning E,Strikwerda-Brown C,Devenney EM,Hodges JR,Kiernan MC,Farooqi IS,Piguet O

更新日期：2019-09-01 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：: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