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Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.

反义寡核苷酸逆转Canavan病小鼠的脑白质营养不良。

  • 影响因子:7.43
  • DOI:10.1002/ana.25674
  • 作者列表:"Hull V","Wang Y","Burns T","Zhang S","Sternbach S","McDonough J","Guo F","Pleasure D
  • 发表时间:2020-03-01
Abstract

:Marked elevation in the brain concentration of N-acetyl-L-aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA-cleaving enzyme aspartoacylase. We now demonstrate that inhibiting NAA synthesis by intracisternal administration of a locked nucleic acid antisense oligonucleotide to young-adult aspartoacylase-deficient mice reverses their pre-existing ataxia and diminishes cerebellar and thalamic vacuolation and Purkinje cell dendritic atrophy. Ann Neurol 2020;87:480-485.

摘要

: N-乙酰-L-天冬氨酸 (NAA) 脑浓度显著升高是Canavan病的特征,这是一种由少突胶质细胞NAA裂解酶天冬氨酸酰化酶缺乏引起的空泡性脑白质营养不良。我们现在证明,通过给年轻的成年天冬氨酸酰基转移酶缺陷小鼠脑室内施用锁定核酸反义寡核苷酸来抑制NAA合成,可以逆转它们先前存在的共济失调,减少小脑和丘脑空泡形成和浦肯野细胞树突状萎缩。Ann Neurol 2020;87:480-485。

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影响因子:1.55
发表时间:2020-01-01
DOI:10.1097/PHM.0000000000001264
作者列表:["Gutiérrez-Cruz C","Rojas Ruiz FJ","De La Cruz Marquez JC","Gutiérrez-Davila M"]

METHODS:PURPOSE:The aim of the study was to assess dual-task cost to spatio-temporal gait parameters in people with multiple sclerosis and a matched control group. METHOD:The multiple sclerosis group was composed of 17 participants with a diagnosis of multiple sclerosis and an Expanded Disability Status Scale score of less than 6. A total of 17 healthy participants were allocated to the control group by stratification. Controls were matched on the basis of age, sex, sociocultural habits, and body structure. Dual-task cost was determined by within-group repeated-measures analysis of variance. Participants were instructed to ambulate under normal conditions and perform a discrimination and decision-making task concurrently. Then, between-group analysis of variance was used to assess differences in mean dual-task cost between groups and determine dual-task cost differential. Testing was performed using three-dimensional photogrammetry and an electronic walkway. RESULTS:Based on dual-task cost differential, gait cycle time increase (-5.8%) and gait speed decrease (6.3%) because of multiple sclerosis-induced impairment. CONCLUSIONS:During single- and dual-task conditions, gait speed was lower in multiple sclerosis participants, because of a shorter step length and increased swing time. Increased gait time might be the result of compensatory mechanisms adopted to maintain stability while walking specially during the double-support phases.

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翻译标题与摘要 下载文献
影响因子:1.55
发表时间:2020-01-01
DOI:10.1097/PHM.0000000000001272
作者列表:["Cattaneo D","Gervasoni E","Pupillo E","Bianchi E","Aprile I","Imbimbo I","Russo R","Cruciani A","Jonsdottir J","Agostini M","Beghi E","NEUROFALL Group."]

METHODS:OBJECTIVE:The aims of the study were to compare mobility in multiple sclerosis, Parkinson disease, and stroke, and to quantify the relationship between mobility and participation restrictions. DESIGN:This is a multicenter cross-sectional study. Included were compliant subjects with Parkinson disease, multiple sclerosis, and stroke seen for rehabilitation, with no comorbidities interfering with mobility. Functional scales were applied to each subject to investigate gait speed (10-meter walking test), balance while maintaining body position (Berg Balance Scale), dynamic balance and mobility (Timed Up and Go and Dynamic Gait Index), and participation (Community Integration Questionnaire). RESULTS:Two hundred ninety-nine patients (111 multiple sclerosis, 94 Parkinson disease, and 94 stroke) were enrolled. Stroke had the slowest gait speed (mean gait speed = 0.9 m/sec) compared with Parkinson disease (1.1 m/sec), and multiple sclerosis (1.2 m/sec) (P < 0.001). Multiple sclerosis was more limited than Parkinson disease and stroke in dynamic balance both in the Timed Up and Go Test (multiple sclerosis = 16.7 secs, Parkinson disease = 11.4 secs, stroke = 14.0 secs; P < 0.001) and Dynamic Gait Index (multiple sclerosis = 11.6 points, Parkinson disease = 12.9 points, stroke = 13.6 points; P = 0.03); ability to maintain balance and body position (Berg Balance Scale) was more affected in stroke and Parkinson disease than multiple sclerosis (multiple sclerosis = 42.6 points, Parkinson disease = 39.4 points, stroke = 39.7 points; P = 0.03). Balance disorders were associated with participation restrictions but not gait speed. CONCLUSIONS:Neurological conditions have differing impacts on gait and balance, leading to different levels of participation restriction.

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翻译标题与摘要 下载文献
影响因子:2.61
发表时间:2020-01-01
DOI:10.1111/ane.13152
作者列表:["Ferraro D","Guicciardi C","De Biasi S","Pinti M","Bedin R","Camera V","Vitetta F","Nasi M","Meletti S","Sola P"]

METHODS:OBJECTIVES:Cerebrospinal fluid (CSF) and blood neurofilaments (NFLs) are markers of axonal damage and are being investigated, mostly in relapsing-remitting (RR) MS, as a marker of disease activity and of response to treatment, while there are less data in progressive MS patients. Primary aim was to measure NFL in plasma samples of untreated patients with primary (PP) and secondary (SP) progressive MS and to correlate them with disability, disease severity, and prior/subsequent disability progression. MATERIALS AND METHODS:Neurofilament concentrations were measured using SIMOA (Single Molecule Array, Simoa HD-1 Analyzer; Quanterix). RESULTS:Neurofilament concentrations were measured on plasma samples of 70 progressive (27 PP and 43 SP), 21 RRMS patients, and 10 HCs. Longitudinal plasma NFL (pNFL) concentrations (median interval between sampling: 25 months) were available for nine PP/SP patients. PNFL concentrations were significantly higher in PP/SP compared to RRMS patients. They correlated with EDSS and MS Severity Score values. There was no difference in pNFL levels between PP/SP patients with EDSS progression in the preceding year (14% of patients) or during a median follow-up of 27 months (41%). In the longitudinal sub-study, pNFL levels increased in all patients between sampling by a mean value of 23% while EDSS mostly remained stable (77% of cases). CONCLUSION:In PP/SP progressive MS patients, pNFL levels correlate with disability and increase over time, but are not associated with prior/subsequent disability progression, as measured by EDSS, which may not be a sufficiently sensitive tool in this context.

脱髓鞘疾病方向

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