Neuroimaging evolution of ischemia in men and women: an observational study.

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：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: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：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：:T cells and B cells are crucial in the initiation and maintenance of multiple sclerosis (MS), and the activation of these cells is believed to be mediated through specific recognition of antigens by the T- and B-cell receptors. The antigen receptors are highly polymorphic due to recombination (T- and B-cell receptors)...

journal_title：Annals of clinical and translational neurology

authors： Lossius A,Johansen JN,Vartdal F,Holmøy T

更新日期：2016-02-25 00:00:00

abstract：Objective:GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. Our study investigates the clinicopathologic features of a patient with novel GMPPB mutat...

journal_title：Annals of clinical and translational neurology

authors： Tian WT,Zhou HY,Zhan FX,Zhu ZY,Yang J,Chen SD,Luan XH,Cao L

更新日期：2019-05-08 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: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：: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：:Neuropathological studies showed early locus coeruleus (LC) neuronal loss associated with tauopathy in Alzheimer's Disease (AD). We used the LC signal intensity (LC-I) on 3T MRI to assess the LC integrity in AD (n = 37) and controls (n = 17). The LC-I was decreased in AD regardless of typical (amnesic) and atypical pr...

journal_title：Annals of clinical and translational neurology

authors： Olivieri P,Lagarde J,Lehericy S,Valabrègue R,Michel A,Macé P,Caillé F,Gervais P,Bottlaender M,Sarazin M

更新日期：2019-07-01 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：:The increasing number of potent treatments for multiple sclerosis warrants screening for infections. To investigate the prevalence of infections in two independent German patient cohorts with multiple sclerosis/neuromyelitis optica spectrum disorders (NMOSD), we performed a retrospective chart review study of multiple...

journal_title：Annals of clinical and translational neurology

authors： Graf J,Leussink VI,Dehmel T,Ringelstein M,Goebels N,Adams O,MacKenzie CR,Warnke C,Feldt T,Lammerskitten A,Klotz L,Meuth S,Wiendl H,Hartung HP,Aktas O,Albrecht P

更新日期：2017-11-24 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:Little is known about the long-term outcome of patients with disorders of consciousness (DOCs) such as unresponsive wakefulness syndrome (UWS) or minimally conscious state (MCS). We describe the disease course of a large group of DOC patients 2-14 years after brain damage. METHODS:In 102 patients (59 UWS, 43...

journal_title：Annals of clinical and translational neurology

authors： Steppacher I,Kaps M,Kissler J

更新日期：2014-06-01 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：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：: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: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：:Rho-associated kinase (ROCK) is an emerging target in acute ischemic stroke. Early pre-hospital treatment with ROCK inhibitors may improve their efficacy, but their antithrombotic effects raise safety concerns in hemorrhagic stroke, precluding use prior to neuroimaging. Therefore, we tested whether ROCK inhibition aff...

journal_title：Annals of clinical and translational neurology

authors： Akhter M,Qin T,Fischer P,Sadeghian H,Kim HH,Whalen MJ,Goldstein JN,Ayata C

更新日期：2018-05-01 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

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:Intracerebral hemorrhage carries a high mortality and survivors are frequently left with significant disability. Immunological mechanisms may play an important role in hemorrhage-induced brain injury, however, research linking these mechanisms with clinical outcome remains limited. We aim to identify serum in...

journal_title：Annals of clinical and translational neurology

authors： Landreneau MJ,Mullen MT,Messé SR,Cucchiara B,Sheth KN,McCullough LD,Kasner SE,Sansing LH,Serum Markers After Spontaneous Cerebral Hemorrhage (SMASCH) Investigators.

更新日期：2018-07-03 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：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:To evaluate the effectiveness of levodopa-carbidopa intestinal gel (LCIG) as an add-on rescue therapy following deep brain stimulation (DBS) for treatment of motor fluctuations. BACKGROUND:Both DBS and LCIG are FDA-approved therapies for treatment of motor fluctuations in advanced PD. Few studies have examin...

journal_title：Annals of clinical and translational neurology

authors： Elkouzi A,Ramirez-Zamora A,Zeilman P,Barabas M,Eisinger RS,Malaty IA,Okun MS,Almeida L

更新日期：2019-10-01 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：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：: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: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：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