Neurological Sciences最新文献

Objective: This study investigated the efficacy of ofatumumab (OFA) combined with corticosteroids in autoimmune encephalitis (AE) patients refractory to conventional treatment.

Methods: Eighteen AE patients admitted to Ruijin Hospital between June 2022 and September 2023 received four subcutaneous 20-mg OFA injections at 0, 1, 6, and 12 weeks combined with standard corticosteroid therapy.

Results: Clinical symptoms, modified Rankin scale (mRS) scores, Clinical Assessment Scale for Autoimmune Encephalitis (CASE) scores, serum immunoglobulin (Ig) levels (IgG and IgM), and peripheral blood CD20 + B cell levels were documented before OFA administration and at 1, 2, 6, 12, and 24 weeks post-treatment. OFA treatment significantly improved psychiatric symptoms (P = 0.025), cognitive dysfunction (P = 0.008), and seizure frequency (P = 0.014). The mRS and CASE scores improved after two injections in patients with anti-NMDAR encephalitis (P = 0.041), but not in patients with anti-LGI1 encephalitis (P > 0.05). The mRS scores significantly improved at 12 weeks post-treatment in antibody-negative encephalitis. Blood CD20 + B cell levels dropped to zero after an average of 2.5 injections. No significant changes could be observed in serum IgG and IgM levels (P > 0.05). Seven patients had mild fever or pulmonary infections post-treatment.

Conclusion: This study suggests that OFA is a safe and effective treatment for a subset of AE patients, particularly in cases of anti-NMDAR encephalitis, though further research is needed on long-term outcomes and recurrence.

Introduction: Pregnancy and postpartum are phases in the women's life where the thrombotic risk is increased both on the venous and on the arterial side.

Methods: We are presenting the case of a young woman at the third pregnancy, carried out without complications until delivery, whose postpartum was characterized by the occurrence of headache. Neuroimaging studies were performed, firstly brain computed tomography (CT) with CT Angiography and after brain Magnetic Resonance Imaging (MRI) with MR Angiography. The main finding was the simultaneous presence of two cerebrovascular vascular diseases, i.e. cerebral venous thrombosis (CVT) and left carotid dissection, without stroke. The neuroimaging features of both the diseases were analyzed and both CVT and dissection had neuroimaging markers of acute timing. After starting heparin therapy at anticoagulant dose the clinical symptoms disappeared within a few days.

Discussion: CVT is a rare event with a peak in the late pregnancy and puerperium, but other arterial cerebrovascular events, as spontaneous dissection, have not an increased incidence in the postpartum. Headache is one of the main symptoms for all these cerebrovascular diseases, but usually stroke is the accompanying event. This is not always true and the presented case illustrates this unexpected occurrence.

Conclusions: Headache is a nonspecific and highly prevalent symptom and in the postpartum period it could raise the suspicion of CVT. Sometimes several different causes are found for the same symptom and concurrent acute cerebrovascular diseases might be considered. Neuroimaging investigations may help for diagnosis and timing concurrent thrombotic diseases, particularly DWI-MRI.

Introduction: This study investigates the significance of glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase L1 (UCHL-1) in cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS) and peripheral neuropathy (PN).

Methods: We included 41 MS patients, 35 PN patients, and 36 controls across 5 sites. MS patient data included lesion counts, disease activity, albumin quotient, and Expanded Disability Status Scale (EDSS) scores. PN patients included those with acute and chronic inflammatory demyelinating polyneuropathy and sensorimotor neuropathy based on nerve conduction studies. CSF concentrations of GFAP and UCHL-1 were measured using the MILLIPLEX Map Human Neuroscience Magnetic Bead Panel 1.

Results: Both GFAP and UCHL-1 levels were significantly higher in the two patient groups compared to controls. In the MS group, GFAP showed a strong correlation with disease duration, EDSS score, non-enhancing lesions, and the CSF/blood albumin quotient. UCHL-1 levels were significantly higher in patients with active disease (gadolinium-enhancing lesions). The combination of UCHL-1 and GFAP improved diagnostic accuracy (AUC 0.895, 95% CI 0.780-1.000) compared to the independent measurement of either marker for indicating Gd-negative lesions. In the PN group, CSF GFAP levels were significantly lower in patients with purely demyelinating neuropathy compared to those with axonal or mixed neuropathy.

Conclusion: GFAP serves as a sensitive marker for axonal damage in PN, while UCHL-1 closely correlates with disease activity in MS patients.

Objective: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with progressive loss of motor neurons. It is a growing and underestimated disease, prompting this epidemiological study to describe the characteristics of ALS in Egyptian patients.

Methods: This is a prospective hospital based study. ALS patients were recruited consecutively from Neuromuscular Unit in Ain Shams university Hospital from December 2018 to June 2023. Demographic data and disease related parameters were recorded.

Results: 203 ALS patients had a mean age of onset equal 39 years and an inter quartile range IQR of (28.00-51.00). 76% of the cases were spinal onset ALS. Median disease duration was 2 years with IQR of (1-4 years); male to female ratio was 2.5:1; 18% of patients were familial ALS (FALS), while 19% were Juvenile ALS (JALS). Median diagnostic delay was 12 ± (6-36) months. Median Amyotrophic Lateral Sclerosis Functional Rating Scale Revised scores (ALSFRS-R) at presentation was 34.5 IQR of (26.00-40.00). Also, the mean rate of disease progression ALSFRS-R decline [points/month] was 0.76 ± 0.51.

Conclusion: Our cohort was characterized by a younger age of onset, male predominance, more familial cases, within average Initial ALSFRS-R scores as well as diagnostic delay. Juvenile ALS patients were much more common in our population. These findings suggest an influential presence of genetic and epigenetic factors affecting the clinical phenotype of Egyptian ALS patients.

Aims: We aimed to measure serum insulin-like growth factor 1 (IGF-1) levels in Parkinson's disease (PD) patients and assess their correlation with non-motor symptoms (NMS).

Background: Emerging evidence suggests that abnormal levels of IGF-1 play a crucial role in the development of PD.

Objective: Further systematic research is needed to explore the potential roles of abnormal IGF-1 levels in NMS of PD.

Methods: The study enrolled a total of 129 PD patients and 130 healthy controls (HCs). Within the PD cohort, 74 patients were classified as being in the early stage, while 55 were in the moderate stage.

Results: This study found no significant difference in serum IGF-1 levels between PD patients and HC. Further analysis revealed no significant difference in IGF-1 levels between early-stage PD and those in the moderate stages. Linear regression analysis indicated a significant association between serum IGF-1 levels and Nonmotor Symptom Scale (NMSS) scores in PD patients. Linear regression analysis revealed significant correlations between serum IGF-1 levels and general cognitive function, information processing speed, and executive function in PD patients. Furthermore, lower serum IGF-1 levels were associated with fatigue in PD patients.

Conclusions: In summary, our study suggests a potential association between serum IGF-1 levels and specific NMS in patients with PD. These findings highlight the importance of long-term follow-up studies to determine whether serum biomarkers can serve as valuable tools for early detection of NMS in PD.

Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.

Case description: Epilepsy onset occurred at 3.5 years with a sleep-related focal autonomic seizure, accompanied by interictal occipital spikes at EEG. In the following months, daytime focal impaired awareness seizures appeared. Due to developmental delay and short stature, trio-based whole-exome sequencing was performed, unraveling two compound heterozygous QARS1 variants: the likely pathogenic c.1304A>G (p.Y435C) and the c.799C>T (p.R267W), extremely rare and predicted deleterious by in silico analysis. At 5 years, the patient had a para-infectious encephalopathy with acute psychomotor slowing, delta-theta activity at EEG, new-onset bilateral subcortical white matter T2-hyperintensities with diffusion restriction at brain MRI, and optimal response to intravenous methylprednisolone administration. At 12-month follow-up, the patient had been seizure-free for a year with levetiracetam monotherapy.

Discussion: Mild QARS1-related encephalopathies may present with a childhood-onset focal epilepsy accompanied by developmental delay and short stature as red flags of monogenic etiology. The episode of steroid-responsive acute para-infectious encephalopathy, previously reported in another patient harboring the p.Y435C variant, suggests that milder cases might be more susceptible to encephalopathy caused by intercurrent illnesses (e.g., infection). As recommended for other aminoacyl-tRNA synthetase-related diseases, it is important to provide this cohort with an early genetic diagnosis in order to encourage precision medicine and personalized treatment.

Background: Drug-resistant epilepsy (DRE) secondary to hypothalamic hamartoma (HH) often requires surgical resection or stereotactic radiosurgery, which frequently fail to provide satisfactory outcomes and are associated with severe side effects. Magnetic resonance-guided focused ultrasound (MRgFUS) may represent a minimally invasive surgical approach to HH by offering precise thermal ablation of sub-millimetric brain targets while sparing surrounding structures.

Methods: We present the case of a 19-year-old man with HH-associated DRE, who was successfully treated with MRgFUS. The procedure resulted in effective ablation of the hypothalamic interface of the HH, disconnecting the epileptogenic lesion from the surrounding brain tissue. We also reviewed the literature on MRgFUS for DRE.

Results: The patient experienced a complete resolution of seizures and significant improvements in social and occupational functioning over an 18-month follow-up period. No neurological, cognitive, or endocrinological adverse effects were observed.

Conclusion: Our case report and literature review suggest that MRgFUS may achieve adequate seizure control in DRE associated with HH without adverse effects. While MRgFUS shows promise for other forms of DRE, data remain preliminary, and some safety concerns persist. Further studies with long-term follow-up are warranted to better support the use of MRgFUS in DRE.

Background: Insomnia is a common sleep disorder affecting approximately 10-20% of adults worldwide. Despite various available treatment modalities, significant gaps remain in improving sleep maintenance and reducing functional impairments.

Objective: To systematically review and synthesize studies on the efficacy and safety of Dimdazenil for the treatment of insomnia.

Methods: A comprehensive search of multiple databases and websites was conducted to identify published and unpublished trials from inception to July 19, 2024. Due to the limited number of studies available, quantitative data were synthesized narratively.

Results: This synthesis included four randomized controlled trials. The primary efficacy endpoints of these studies met the predetermined criteria for superiority. Dimdazenil significantly improved certain objective and subjective sleep measures in patients with insomnia, including reduced sleep latency and longer total sleep duration. Importantly, these outcomes were achieved without causing significant excessive daytime drowsiness or impairing daytime functionality. Furthermore, Dimdazenil demonstrated a generally acceptable safety profile and was well tolerated. Most evaluation indicators related to withdrawal symptoms, drug residues, and rebound effects did not show significant statistical differences.

Limitations: The number of included studies and sample sizes were small, and there is a lack of data on the long-term efficacy and safety of Dimdazenil.

Conclusions: Dimdazenil offers significant benefits in improving sleep onset and maintenance in patients with insomnia. It presents a favorable safety and tolerability profile while preserving daytime functioning. Future studies should extend the duration and scale to assess the long-term efficacy and safety of Dimdazenil across diverse populations.