Unveiling Parkinson's disease through biomarker research: current insights and future prospects.

Parkinson's disease (PD) is a neurodegenerative condition marked by the gradual depletion of dopaminergic neurons in the substantia nigra. Despite substantial strides in comprehending potential causative mechanisms, the validation of biomarkers with unequivocal evidence for routine clinical application remains elusive. Consequently, the diagnosis heavily relies on patients' clinical assessments and medical backgrounds. The imperative need for diagnostic and prognostic biomarkers arises due to the prevailing limitations of treatments, which predominantly address symptoms without modifying the disease course. This comprehensive review aims to elucidate the existing landscape of diagnostic and prognostic biomarkers for PD, drawing insights from contemporary literature.

Evaluation of Substantia Nigra morphology in Parkinson's Disease.

In the elderly population, Parkinson's Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (P > .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (P > .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (P > .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

BACKGROUND: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism. CASE PRESENTATION: Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before. CONCLUSIONS: We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype-phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.

Masked face recognition in patients with relapsing-remitting multiple sclerosis during the ongoing COVID-19 pandemic.

BACKGROUND: Face and facial expression recognition abilities have been frequently evaluated in the assessment of social cognition disorders in patients with MS. Investigation of the effect of new difficulties emerging in the field of face recognition with the widespread use of masks during the ongoing COVID-19 pandemic on patients with MS may make new contributions to the literature. MATERIAL AND METHODS: The study included 44 patients with relapsing-remitting MS (RRMSp) and 51 controls who were matched to the case group in terms of age and education level. The Benton face recognition test-short form (BFRT-sf), Beck Depression Inventory, a close-ended 13-item survey on face recognition difficulties due to mask use during the pandemic was administered to all groups. RESULTS: In the RRMSp, the mean disease duration was 8.2 ± 5.6, the mean EDSS score was 1.2 ± 1.0, and the mean MOCA test score was 27.23 ± 2.08. The mean BFRTsf was 19.9 ± 2.4 in the RRMSp and 21.6 ± 1.8 in the healthy controls.Twenty-five percent of RRMSp and 4% of the healthy controls required people to remove their masks to be able to recognize their faces. Improvement in face recognition difficulty over time was reported as 80% in the healthy controls and 34% in the RRMSp. CONCLUSION: RRMSp had worse performance in masked face recognition and required removal of the facial masks more often than healthy controls to recognize the faces. RRMS patients did not show as much improvement in recognizing masked faces over time according to the onset of the pandemic as healthy controls.

Intermittent Subcutaneous Injections of Apomorphine in Parkinson's Disease.

The intermittent subcutaneous injection of apomorphine is highly effective in the management of motor and non-motor symptoms of Parkinson's disease. Although it has been shown that apomorphine injection can be safely used in selected cases at all stages of the disease, there is no consensus regarding intermittent administration strategies. This review aimed to discuss the indications for intermittent subcutaneous apomorphine use in clinical practice, possible side effects and their management, and contraindicated cases in light of the literature and to present practical recommendations for clinical practice.