Neurological Sciences最新文献

The presence of non-motor symptoms (NMS) such as olfactive deficit or neuropsychiatric symptoms has been associated with the diagnosis of Parkinson's Disease (PD). NMS are also associated with different brain structural features underlying distinctive processes in PD. NMS has been poorly studied in patients with a PD-like clinical profile, showing Scans Without Evidence of Dopaminergic Deficit (SWEDD). This study proposes to compare classification models differentiating PD, SWEDD and Healthy Controls (HC) based on NMS and neurostructural factors. 683 participants (382 PD diagnosed in the last 2 years, 48 with SWEDD, 170 HC) from the PPMI dataset were compared based on available assessments. Each participant underwent an olfactive, neuropsychiatric and sleep assessment, and a 3T MRI. Brain volumes were extracted and standardized from each MRI. Classifications were based on logistic regressions using 5-fold cross-validation models combining different NMS and MRI data and determining their involvement in differentiation between patient subgroups (PD vs. SWEDD) or between patients and HC. NMS were significant factors in PD vs. SWEDD, PD vs. HC and SWEDD vs. HC classifiers, when considered alone or in combination with MRI data. No classification models were significantly different from chance based-on MRI, nor more accurate combining NMS and MRI when compared with models based on NMS only. These results highlight the importance of NMS in differentiating between PD and SWEDD, PD and HC, SWEDD and HC. However, classical imaging data such as cortical and subcortical volumetry seems insufficient to improve these classifications. Other imaging features such as connectivity could also be studied.

Objectives: Hypertrophic olivary degeneration (HOD), a rare type of trans-synaptic degeneration of the central nervous system (CNS) caused by disruption of the dentato-rubro-olivary pathway (DROP), is mainly described in the form of case reports. Our aim in this study is to summarize the clinical and imaging characteristics of patients with HOD following brainstem stroke.

Methods: A retrospective analysis was performed for all patients who were selected from electronic case databases between October 2019 and January 2024 in the Jiangxi Provincial People's Hospital and the Xinyu People's Hospital. The clinical data of included patients were summarized by our experienced neurologists. Besides, we analyzed the anatomical pathways between primary lesions in the brainstem and subsequent HOD.

Results: A total of 11 patients, including 2 females and 9 males, were included in this retrospective study. HOD associated clinical presentations consisted of Holmes tremor (HT) (n = 6), palatal tremor (PT) (n = 4), cerebellar ataxia (n = 4), and nystagmus (n = 4). On initial MRI, pontine and midbrain lesions were found in 10 and 1 patients, respectively. Upon follow-up neuroradiological evaluation, unilateral and bilateral HOD appeared in 6 and 5 cases, respectively. Isolated mesencephalic lesion might lead to bilateral HOD, which was due to the involvement of the decussation of the superior cerebellar peduncle (SCP).

Conclusion: For HOD associated clinical presentations, HT and cerebellar ataxia were the commonest. Unilateral pontine lesions might give rise to both unilateral and bilateral HOD, whereas bilateral HOD caused by isolated mesencephalic lesion was extremely rare.

Background: Pathogenic DNM1 variants cause early-onset developmental and epileptic encephalopathy (DEE). The GTPase domain of the DNM1 protein has the most commonly affected sites.

Aim: This study aimed to delineate additional patients with DNM1-related disorders harboring novel GTPase domain variants.

Methods: Trio whole-exome sequencing was performed on three Chinese probands with suspected encephalopathy, and Sanger sequencing was used to confirm the variants. Detailed evaluations were used to assess clinical features. Variant plasmids were constructed in vitro and transfected into cells, and the expression of mutant proteins was evaluated using western blotting (WB).

Results: Three de novo heterozygous DNM1 variants were detected in the GTPase domain, namely, NM_004408.4: c.112_120delinsAGCGGCCAC, (p.Gly38_Gln40delinsSerGlyHis), c.457G > A, (p.Glu153Lys), and c.193 A > C, (p.Thr65Pro) in Patients 1, 2, and 3, respectively. Patients 2 and 3 exhibited typical DEE phenotypes with early-onset refractory seizures, profound developmental impairment, intellectual disability, and abnormal electroencephalography findings. However, Patient 1 did not have seizures and her clinical symptoms were autism features, mild hearing loss, subtle changes in the brain, and developmental delays. WB indicated that the expression of plasmids carrying the p.Thr65Pro and p.Glu153Lys variants was not significantly different from that in the wild-type control group and that the expression of the p.Gly38_Gln40delinsSerGlyHis plasmid was elevated.

Conclusions: This study expands the genetic and phenotypic spectrum of DNM1-associated disorders and reveals that de novo pathogenic variants in the GTPase domain can lead to divergent neurological outcomes ranging from infantile epileptic encephalopathy syndromes to predominant developmental delays without seizures.

Background: People with multiple sclerosis (MS) have a higher risk of cardiovascular disease than the general population, but the data are limited. Evaluation with strain echocardiography, a new echocardiographic method, can provide more objective data to evaluate global and segmental left ventricular systolic functions. Left ventricular Global Longitudinal Strain (GLS) may be useful in demonstrating subclinical myocardial dysfunction in MS, therefore we planned such a study. We aim to evaluate LV functions with GLS obtained with basal tissue doppler in people with MS.

Material and methods: A comparison of the demographic laboratory and echocardiographic findings of the multiple sclerosis patients with strain echocardiography records registered in our hospital and the control group with similar age and gender was performed. 80 RRMS patients and 65 control group were compared. Those with another chronic disease, those who received exacerbation treatment within the last month, those outside the age range of 18-65, and other forms of progressive MS were excluded from the study.

Results: GLS scores was significantly lower in the MS group(-17.05 ± 1.33 vs.18.99 ± 1.08, p < 0.001). The optimal GLS score predicted poor LV functional status in people with MS with high EDSS scores with cut-off value ≤ 17.10, sensitivity of 73%, specificity of 58% [AUC: 0.652 95% CI, (0.531-0.773), p = 0.023]. It was observed that as the EDSS score increased, that is, in the presence of worse clinical condition, the GLS score decreased (r = -0.245, p = 0.003).

Conclusions: We think that strain echocardiography may be useful in demonstrating subclinical myocardial damage in people with MS. We found that as the EDSS score, that is, the severity of the disease, increases, the subclinical effect on cardiac functions increases.

Introduction: Narcolepsy type 1 (NT1) is a rare central sleep disorder characterized by a selective loss of hypocretin/orexin (hcrt)-producing neurons in the postero-lateral hypothalamus that project to widespread areas of the brain and brainstem. The aim of this study was to explore in a group of NT1 patients the metabolic alterations in the pons and their associations with disease features.

Methods: Twenty-one NT1 patients (16 M) and twenty age-matched healthy controls (10 M) underwent a brain ¹H MRS on a 1.5 T GE Medical Systems scanner. Metabolite content of N-acetyl-aspartate (NAA), choline (Cho), and myo-inositol (mI) were estimated relative to creatine (Cr), using LCModel 6.3. Clinical data were also collected with validated questionnaires, polysomnography, the Multiple Sleep Latency Test (MSLT), Cerebrospinal fluid hypocretin-1 (CSF hcrt-1) concentration and genetic markers.

Results: NT1 patients compared with healthy controls showed lower NAA/Cr ratio (p = 0.007) and NAA/mI ratio (p = 0.011) in the pons. The Epworth Sleepiness Scale score showed a significant negative correlation with NAA/Cr content (p = 0.023), MSLT sleep latency a negative correlation with the mI/Cr ratio (p = 0.008), and sleep onset REM periods a positive correlation with the mI/Cr ratio (p = 0.027). CSF hcrt-1 levels were positively correlated with the NAA/Cr ratio (p = 0.039) and negatively with the mI/Cr ratio (p = 0.045) and the Cho/Cr ratio (p = 0.026).

Conclusion: The metabolic alterations found in the pons of NT1 patients using the MR Spectroscopy technique were associated with subjective and objective disease severity measures, highlighting the crucial role of this biomarker in the pathophysiology of the disease.

Objectives: To study the prevalence and timing of neurological manifestations, including cognitive involvement, in patients hospitalized for Coronavirus disease 2019 (COVID-19). To analyze the pathogenic mechanisms and any association they have with disease severity.

Methods: Longitudinal cohort study with prospective follow-up of patients who required hospitalization. Patients under 65 who had no pre-existing cognitive impairment and did not require an ICU stay were evaluated 3 and 12 months after discharge using a battery of neuropsychological tests.

Results: Of 205 patients hospitalized for COVID-19, 153 (74.6%) presented with neurological manifestations. The most frequent were myalgia (32.7%), headache (31.7%), dysgeusia (29.2%), and anosmia (24.9%). Patients with more severe illness at the time of hospitalization presented fewer neurological manifestations. Of the 62 patients who underwent neuropsychological examination 3 months after discharge, 22.6% had impaired attention, 19.4% impaired working memory, 16.1% impaired learning and retrieval, 9.7% impaired executive functions, and 8.2% impaired processing speed. Patients with anosmia also presented with more headache (OR 5.45; p < 0.001) and greater risk of working memory impairment (OR 5.87; p 0.03). At follow-up 12 months after hospital discharge, 14.3% of patients still showed impaired attention, 2.4% impaired working memory, 2.5% impaired executive functions, and 2.5% impaired processing speed.

Discussion: Neurological manifestations are common in patients hospitalized for COVID-19 regardless of severity. The high prevalence of anosmia and its association with headache and working memory impairment at 3 months, suggest potential direct or indirect damage to the prefrontal cortex via invasion of the olfactory bulb by COVID-19.

Background: Tocilizumab is effective in neuromyelitis optica spectrum disorder (NMOSD). It remains unclear when to initiate or discontinue tocilizumab treatment. We aimed to compare the efficacy of early versus escalation tocilizumab treatment in patients with NMOSD.

Methods: A retrospective study of 41 patients with NMOSD who received regular tocilizumab administration was conducted. The early tocilizumab group comprised patients who started tocilizumab after their first attack, while the escalation group included patients who initially received empirical disease-modifying drugs (DMDs) and later escalated to tocilizumab after relapses. Tocilizumab was administered at 8 mg/kg with routine infusions at 4-week intervals. The primary outcome was improvement in the extended disability status scale (EDSS) score at months 3, 6, and 12 during the follow-ups. An additional secondary outcome was annualised relapse rate (ARR).

Results: The early tocilizumab treatment group showed reduced median EDSS scores at 3, 6 months, with no further reduction at 12 months. The escalation treatment group showed reduced EDSS score at 6 months, with no further reduction at 12 months. The Inter-group analysis showed the early tocilizumab treatment group had significantly lower EDSS scores at 3, 6, and 12 months compared to the escalation treatment group. The ARR was not different at 36 months. Additionally, no difference of ARR was observed in those who were transferred to low-dose rituximab.

Conclusions: Early use of tocilizumab reduces the degree of disability compared to escalation treatment in NMOSD, with no much differences on relapse rate. Low-dose rituximab may be a feasible candidate switching from tocilizumab.