Acta neurologica Belgica最新文献

Human MutT homolog 1 (MTH1) plays a crucial role in sanitizing oxidized DNA precursors by enzymatically hydrolyzing oxidized nucleotides. The absence of MTH1 activity in the cells results in the accumulation of oxidized nucleotides within the nucleus and mitochondria, leading to mutations, abnormal proteins, and neurodegeneration (in the central nervous system). It has garnered interest as a potential target for anticancer treatment through targeted inhibitor molecules but remains largely understudied in other neurological disorders. This review explores the understanding of MTH1 expression in glioma and its potential role in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease concerning disease mechanism and prognosis. Neurodegeneration, activation of glial cells, and mitochondrial dysfunction are common mechanisms involved in the progression of these diseases. This review also tries to identify the unexplored associations and research gaps that can reveal novel applications of the enzyme in epilepsy, in which MTH1 is studied less. The influence of the ROS environment and cell type on MTH1 expression and function is crucial to be studied for elucidating its role in a multitude of CNS pathologies. The involvement of microglial cell-mediated inflammatory responses through ROS production in epileptogenesis in mouse models highlights the interplay between oxidative stress and neuroinflammation in epilepsy. The possible existence of a similar association between MTH1 expression and pathogenesis of the discussed neurological disorders in vivo demands further exploration preclinically and in patient samples.

Objective: Conventional imaging often struggles to differentiate between primary angiitis of the central nervous system (PACNS) and intracranial tumors. This study aims to evaluate the application value of proton magnetic resonance spectroscopy (¹H-MRS) in distinguishing PACNS from intracranial tumors.

Methods: This study collected data from 10 patients with PACNS and 15 patients with intracranial tumors (10 gliomas and 5 lymphomas) confirmed by pathological biopsy. The levels of choline (Cho), creatine (Cr), and N-acetylaspartate (NAA) in the lesion areas and contralateral normal brain tissue were measured and analyzed using ¹H-MRS, and the ratios of Cho/Cr, NAA/Cr, and Cho/NAA were calculated. The diagnostic efficacy of ¹H-MRS in distinguishing PACNS from intracranial tumors was evaluated using receiver operating characteristic (ROC) curves and area under the curve (AUC).

Results: Compared to contralateral normal brain tissue, significant differences were observed in the ratios of Cho/Cr, NAA/Cr, and Cho/NAA between the lesion areas of PACNS and intracranial tumors (P < 0.001). After correcting for the corresponding normal brain tissue spectra, the NAA/Cr ratio in PACNS lesion areas was significantly higher than in intracranial tumor lesions (0.90 vs. 0.25, P < 0.001), and the Cho/NAA ratio was significantly lower in PACNS lesions (1.98 vs. 9.00, P < 0.001), while the difference in Cho/Cr was not significant (1.59 vs. 1.94, P = 0.405). When the corrected NAA/Cr ratio was ≥ 0.71, the ROC-AUC for diagnosing PACNS was 1.00, with both specificity and sensitivity at 100%. The subgroup analysis of glioma/lymphoma yielded similar results.

Conclusion: The ratios of NAA/Cr and NAA/Cho are significantly meaningful in differentiating PACNS from intracranial tumors, and ¹H-MRS can be an effective tool for distinguishing these two conditions.

In Wilson's disease (WD) improper copper metabolism results in copper accumulation in various organs, mainly brain and liver. The sense of smell is today one of the focuses of interest in aging and neurodegenerative diseases research. However, in WD olfactory function (OF) is still poorly investigated. Our aim was to perform a systematic review of the studies evaluating OF in WD. We searched PubMed for original papers evaluating olfactory function in WD and retrieved five articles. Additionally, one article was identified while viewing the references lists of the included studies. Finally, we included 6 studies. The number of patients ranged from 12 to 68 (altogether 222 WD patients) and their clinical characteristics were variable. Differences in methodology (mainly various tests used for OF evaluation) made it impossible to meta-analyze the data. OF was worse in WD than in controls in all studies. In 3 studies OF was impaired significantly in neurologic phenotype vs hepatic, which was not confirmed in 2 other studies. Correlation between OF and presence of brain lesions in magnetic resonance imaging was inconsistent across two studies. Only one study assessed brain regions involved in the olfactory tract by evaluating olfactory bulb volume. There was no effect of WD treatment, including its type and duration on OF (4 studies). One study additionally assessed taste which was preserved in WD. Although OF was found to be abnormal in WD, this area remains insufficiently explored. Further studies conducted on larger cohorts, with a focus on olfactory tract damage, is essential.

Background: Idiopathic Intracranial Hypertension (IIH) is a disease of unknown etiology. Understanding the role of Retinol Binding Protein (RBP) in IIH pathogenesis could provide valuable perceptions into disease mechanisms and potentially identify new therapeutic targets.

Methods: The study conducted a comprehensive search of electronic databases following PRISMA guidelines. The inclusion criteria involved human studies published in English that reported RBP levels in IIH patients. The New Castle Ottawa scale was used for the quality assessment of the included studies. Analysis was done using the Random Effects Model with 95% Confidence Interval.

Results: A total of 4 studies met the inclusion criteria for meta-analysis. The quality score for the included studies ranged from 5 to 6. The pooled analysis indicated significant association of RBP with risk of IIH, with higher serum RBP levels (SMD = 1.56, 95% CI: 0.13 to 2.98, I² = 93.9) and lower CSF RBP levels (SMD = -0.67, 95% CI: -1.37 to 0.04, I² = 65.4) as compared to controls. Significant heterogeneity was found in the studies, suggesting variability in study design and methods. Further subgroup analysis by investigation method also showed significant results (SMD = 1.56, 95% CI: 0.13 to 2.98, I2 = 93.9).

Conclusion: The findings of this study propose that an elevated level of RBP may contribute to the risk of IIH, potentially through its involvement in retinol transport and metabolism. The study has been registered in PROSPERO (CRD42023436827).

Purpose: This study aimed to examine the validity and reliability of the Turkish version of the Ottawa Sitting Scale (OSS-TR) in patients with multiple sclerosis (MS).

Methods: The study included 52 patients aged 29-45 who were diagnosed with MS based on McDonald criteria. To establish construct validity, structural (with confirmatory factor analysis, CFA) and convergent validity were examined. For convergent validity, the associations between the OSS-TR score with the Trunk Impairment Scale (TIS) and Berg Balance Scale (BBS) scores were analyzed. The average variance extracted (AVE) and construct reliability (CR) were calculated to enhance the assessment of convergent validity. To assess the reliability of the OSS-TR, the scale was re-administered to all participants seven days later by the same rater, and the intraclass correlation coefficient (ICC) was computed to determine the test-retest reliability.

Results: According to the factor analysis results, the scale was found to have a single factor. CFA indicated that the model fit indices for the OSS-TR were acceptable, verifying its construct validity. Strong correlations between the OSS-TR score and BBS (r = 0.843) and TIS (r = 0.867) scores confirmed the convergent validity of the OSS-TR (p < 0.05). Furthermore, the fact that the AVE score (0.578) was greater than 0.50 and the CR score (0.905) was greater than 0.70 supported convergent validity. The OSS-TR had high test-retest reliability (ICC = 0.953) and internal consistency (Cronbach's alpha = 0.934).

Conclusion: According to the results of the study, the OSS-TR is a reliable and valid tool for assessing sitting balance in Turkish-speaking MS patients.

With the increasing use of disease modifying therapies as treatment for multiple sclerosis, knowledge of the rare but possibly severe adverse events becomes increasingly important. We present a case of Varicella-Zoster virus associated vasculopathy in a young male multiple sclerosis patient, treated with dimethyl fumarate. We aim to address this rare but potentially deadly complication of varicella-Zoster virus infection and spread awareness about the increased risk in this patient population.