Optimizing image registration and infarct definition in stroke research.

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：: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：:Plasma neuronal exosomal levels of pathogenic Alzheimer's disease (AD) proteins, cellular survival factors, and lysosomal proteins distinguish AD patients from control subjects, but changes in these exosomal proteins associated with normal aging have not been described for cognitively intact subjects. Plasma neuronal ...

journal_title：Annals of clinical and translational neurology

authors： Abner EL,Jicha GA,Shaw LM,Trojanowski JQ,Goetzl EJ

更新日期：2016-04-13 00:00:00

abstract：Objective:Area postrema (AP) syndrome (defined as: nausea and/or emesis and/or singultus at onset of brainstem dysfunction) comprises complex pathophysiologic mechanisms triggered by different entities. The first objective was to assess the frequency of AP syndrome as a clinical feature in brainstem encephalitis (BE). ...

journal_title：Annals of clinical and translational neurology

authors： Zeiner PS,Brandhofe A,Müller-Eschner M,Steinmetz H,Pfeilschifter W

更新日期：2018-10-31 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：Objectives:The aim of this study was to investigate whether short-term inverse occlusion, combined with moderate physical exercise, could promote the recovery of visual acuity and stereopsis in a group of adult anisometropic amblyopes. Methods:Ten adult anisometropic patients underwent six brief (2 h) training session...

journal_title：Annals of clinical and translational neurology

authors： Lunghi C,Sframeli AT,Lepri A,Lepri M,Lisi D,Sale A,Morrone MC

更新日期：2018-12-28 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：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 examine whether apolipoprotein B (ApoB), apolipoprotein A-1 (ApoA1), or their ratio (ApoB/A1) were associated with early changes in cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) pathology in elderly adults with subjective cognitive decline (SCD). METHODS:This study included 507 objectiv...

journal_title：Annals of clinical and translational neurology

authors： Hu H,Tan L,Bi YL,Xu W,Tan L,Shen XN,Hou XH,Ma YH,Dong Q,Yu JT

更新日期：2020-10-01 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：: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: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:To study the safety of antiepileptic drug (AED) withdrawal after temporal lobe epilepsy (TLE) surgery. METHODS:We reviewed patients who underwent TLE surgery from 1995 to 2011, collecting data on doses, dates of AED initiation, reduction, and discontinuation. Predictors of seizure outcome were defined using ...

journal_title：Annals of clinical and translational neurology

authors： Yardi R,Irwin A,Kayyali H,Gupta A,Nair D,Gonzalez-Martinez J,Bingaman W,Najm IM,Jehi LE

更新日期：2014-02-01 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：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：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：: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: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 dominant model of cognitive impairment in focal epilepsy has emphasised structural bases for cognitive deficits. Current theories of cognition in the healthy brain emphasise the importance of the reweighting of brain network interactions in support of task performance. Here, we explore the hypothesis that...

journal_title：Annals of clinical and translational neurology

authors： Tailby C,Kowalczyk MA,Jackson GD

更新日期：2017-11-24 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：: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: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：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：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：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：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:Increased translocator protein (TSPO), previously known as the peripheral benzodiazepine receptor (PBR), in glial cells of the brain has been used as a neuroinflammation marker in the early and middle stages of neurodegenerative diseases, such as Alzheimer's disease (AD) and Dementia with Lewy Bodies (DLB). I...

journal_title：Annals of clinical and translational neurology

authors： Xu J,Sun J,Perrin RJ,Mach RH,Bales KR,Morris JC,Benzinger TLS,Holtzman DM

更新日期：2019-08-01 00:00:00

abstract：Objective:The objective of this study was to evaluate prespecified and post hoc analyses in RENEW subgroups to identify participants more likely to benefit from opicinumab. Methods:RENEW assessed the efficacy/safety of opicinumab versus placebo in participants with a first unilateral acute optic neuritis (AON) episode...

journal_title：Annals of clinical and translational neurology

authors： Cadavid D,Balcer L,Galetta S,Aktas O,Ziemssen T,Vanopdenbosch LJ,Leocani L,Freedman MS,Plant GT,Preiningerova JL,Ziemssen F,Massacesi L,Chai Y,Xu L,RENEW Study Investigators.

更新日期：2018-08-15 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:Few studies have captured the neuropsychological profile of sporadic Creutzfeldt-Jakob disease (sCJD) with neuropsychological testing, and little is known about cognitive predictors of survival. We characterized baseline neuropsychological performance in sCJD and investigated associations with survival. METH...

journal_title：Annals of clinical and translational neurology

authors： Sundaram SE,Staffaroni AM,Walker NC,Casaletto KB,Casey M,Golubjatnikov A,Metcalf S,O'Leary K,Wong K,Benisano K,Forner S,Gonzalez Catalan M,Allen IE,Rosen HJ,Kramer JH,Geschwind MD

更新日期：2020-09-01 00:00:00