Immune and myodegenerative pathomechanisms in inclusion body myositis.

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: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：: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: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: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:Several single-nucleotide polymorphisms (SNPs) are associated with restless legs syndrome (RLS). This study investigated whether or not additional SNP variants increase the risk of RLS in migraineurs and in migraine with aura (MA) and migraine without aura (MoA) subgroups. METHODS:Migraineurs with and withou...

journal_title：Annals of clinical and translational neurology

authors： Lin GY,Lin YK,Liang CS,Lee JT,Tsai CL,Hung KS,Luo WJ,Tsai CK,Hsu YW,Ho TH,Yang FC

更新日期：2020-10-01 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:Oxidative stress in the brain is highly prevalent in many neurodegenerative disorders including lysosomal storage disorders, in which neurodegeneration is a devastating manifestation. Despite intense studies, a precise mechanism linking oxidative stress to neuropathology in specific neurodegenerative diseases...

journal_title：Annals of clinical and translational neurology

authors： Peng S,Xu J,Pelkey KA,Chandra G,Zhang Z,Bagh MB,Yuan X,Wu LG,McBain CJ,Mukherjee AB

更新日期：2015-11-06 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 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：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:Multiple sclerosis (MS) is a heterogenous, inflammatory disease of the central nervous system. Microbiota alterations in MS versus healthy controls (HC) are observed, but results are inconsistent. We studied diversity, enterotypes, and specific gut microbial taxa variation between MS and HC, and between MS su...

journal_title：Annals of clinical and translational neurology

authors： Reynders T,Devolder L,Valles-Colomer M,Van Remoortel A,Joossens M,De Keyser J,Nagels G,D'hooghe M,Raes J

更新日期：2020-04-01 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：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：Objective:Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathway...

journal_title：Annals of clinical and translational neurology

authors： Lynch DR,Farmer J,Hauser L,Blair IA,Wang QQ,Mesaros C,Snyder N,Boesch S,Chin M,Delatycki MB,Giunti P,Goldsberry A,Hoyle C,McBride MG,Nachbauer W,O'Grady M,Perlman S,Subramony SH,Wilmot GR,Zesiewicz T,Meyer C

更新日期：2018-11-10 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：: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：: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：: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: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 present an exploratory study for identification of sex differences in imaging biomarkers that could further refine selection of patients for acute reperfusion therapy and trials based on sex and imaging targets. Methods:The Lesion Evolution in Stroke and Ischemia On Neuroimaging (LESION) study included co...

journal_title：Annals of clinical and translational neurology

authors： Dula AN,Luby M,King BT,Sheth SA,Magadán A,Davis LA,Gealogo GA,Merino JG,Hsia AW,Latour LL,Warach SJ,LESION Investigators.

更新日期：2019-02-21 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: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：:To confirm the diagnostic accuracy of candidate biomarkers in stroke-associated pneumonia (SAP), we prospectively enrolled ischemic stroke patients with NIHSS ≥ 10 on admission from March-2016 to August-2017. Blood samples were collected at baseline, 24 and 48 h after stroke onset. Biomarkers (MR-proADM, suPAR, SAA) w...

journal_title：Annals of clinical and translational neurology

authors： Zapata-Arriaza E,Mancha F,Bustamante A,Moniche F,Pardo-Galiana B,Serrano-Gotarredona P,Navarro-Herrero S,Pallisa E,Faura J,Vega-Salvatierra Á,Penalba A,Escudero-Martínez I,Ramos-Herrero VD,Azurmendi L,Charles Sanchez J,Mont

更新日期：2019-09-01 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：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：: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:Determining the sequence in which Huntington's disease biomarkers become abnormal can provide important insights into the disease progression and a quantitative tool for patient stratification. Here, we construct and present a uniquely fine-grained model of temporal progression of Huntington's disease from pr...

journal_title：Annals of clinical and translational neurology

authors： Wijeratne PA,Young AL,Oxtoby NP,Marinescu RV,Firth NC,Johnson EB,Mohan A,Sampaio C,Scahill RI,Tabrizi SJ,Alexander DC

更新日期：2018-04-02 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：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