Browsing by Author "Zetterberg, Henrik"

Now showing 1 - 3 of 3
  • No Thumbnail Available
    Item
    Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
    (2021-01-20) Millere, Elīna; Rots, Dmitrijs; Glāzere, Ieva; Tauriņa, Gita; Kurjāne, Nataļja; Priedīte, Viktorija; Gailīte, Linda; Blennov, Kaj; Zetterberg, Henrik; Ķēniņa, Viktorija; Department of Doctoral Studies; Scientific Laboratory of Molecular Genetics; Department of Biology and Microbiology
    Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia. Methods: We deeply phenotyped and evaluated the possible extent of affected systems in all patients with SBMA in Latvia (n = 5). In addition, neurophysiological studies and blood analyses were used to perform a molecular diagnosis and evaluate biochemical values. We analyzed neurofilament light (NfL) as a possible biomarker. Results: Neurological examination revealed typical SBMA clinical manifestations; all patients had small or large nerve fiber neuropathy. Three of five patients had increased neurofilament light levels. Conclusion: The study confirms the systemic involvement in patients suffering from SBMA. Increased NfL concentration was associated with either peripheral neuropathy or decreased body mass index. The complex phenotype of the disease should be kept in mind, as it could help to diagnose patients with SBMA.
  • No Thumbnail Available
    Item
    Functional and Cognitive Impairment in Patients with Relapsing–Remitting Multiple Sclerosis: Cognitive Tests and Plasma Neurofilament Light Chain Levels
    (2025-01-03) Polunosika, Elīna; Simrén, Joel; Akmene, Arta; Klimovskis, Ņikita; Blennow, Kaj; Pastare, Daina; Zetterberg, Henrik; Erts, Renārs; Karelis, Guntis; Department of Neurology and Neurosurgery; Department of Infectology
    Background and Objectives: Multiple sclerosis (MS) is a chronic inflammatory, autoimmune, and neurodegenerative disease of the central nervous system. The disease can manifest and progress with both physical and cognitive symptoms, affecting the patient’s daily activities. The aim of our study was to investigate the correlation between functional status, cognitive functions, and neurofilament light chain levels in plasma in MS patients. Materials and Methods: In a cross-sectional study, MS patients with a relapsing–remitting course (according to McDonald’s criteria, 2017) (n = 42) from Riga East University Hospital and a control group (n = 42) were included. In the MS group, the functional status was determined using the Expanded Disability Status Scale (EDSS), and neurofilament light chain levels in plasma (pNfL) were detected using single molecule array (Simoa) technology. The symbol digit modalities test (SDMT), brief visuospatial memory test—revised (BVMT-R), and the nine-hole peg test (9-HPT) were performed on the MS and control groups, dividing the groups by education level. Results: On the SDMT spreading speed, the MS group performed worse than the control group. The median score for the control group was 94.0, and for the MS group, it was 81.3. Slower performance on the SDMT also correlated with a higher EDSS in the MS group. Cognitive processing speed and memory were better in the control group and among individuals with higher education in both groups. For the BVMT-R, we found no difference between the two groups; both groups were able to learn the task equally well, but we found a weak correlation between age and learning in both groups, which could be related to the normal aging process. Execution reaction speed on the 9-HPT with the dominant hand was slower in the MS group (24.1 s) than in the control group (19.4 s). In the MS group, we observed a trend between SDMT performance and pNfL levels: higher pNfL levels were found in individuals who performed more slowly on the SDMT. Conclusions: Cognitive and fine motor dysfunction correlates with neurological impairment and plasma neurofilament light chain levels in MS patients.
  • No Thumbnail Available
    Item
    Polyneuropathy in systemic sclerosis : exploring the causes and biomarkers
    (2024) Ivanova, Kristīne; Zolovs, Maksims; Blennow, Kaj; Zetterberg, Henrik; Kurjāne, Nataļja; Ķēniņa, Viktorija; Department of Doctoral Studies; Statistics Unit; Department of Biology and Microbiology; Institute of Oncology and Molecular Genetics
    Introduction: Systemic sclerosis (SSc) is a rare autoimmune disease with multiple organ involvement; however, the contribution of the nervous system (NS) remains relatively understudied. There are no specific data on the role of the autoimmune response and inflammation in the development of peripheral nerve system (PNS) damage in SSc and markers to assess this damage have yet to be identified.  Objectives: The primary objective of this study was to define the autoimmune mechanisms that lead to neuropathy by identifying antibodies (Abs) that target certain component of the NS or are associated with SSc. The secondary objective was to identify markers of NS damage that correlate with the detection and progression of polyneuropathy (PNP).  Methods: This study included patients diagnosed with SSc who met ACR/EULAR 2013 classification criteria at two leading Latvian hospitals between January 2016 and December 2021. Patients underwent a nerve conduction study (NCS). The SSc-associated Abs, Abs against myelin-associated glycoprotein (MAG) and anti-ganglioside Abs (GM1, GM2, GD1a, GD1b and GQ1b) were analysed. Potential serum PNS biomarkers—neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), fibroblast growth factor 21 (FGF21) and growth/differentiation factor 15 (GDF15)—were measured.  Results: We recruited 103 Caucasian patients diagnosed with SSc. SSc-associated Abs did not differ significantly between patients with and without PNP (p > 0.05). Anti-MAG and anti-ganglioside Abs in patients with PNP did not present a significant increase above the reference range. NfL, GFAP and GDF15 were significantly elevated in the presence of PNP (p < 0.05), with a moderate to high effect size (r = 0.36–0.65). Our regression analysis revealed a strong association between the HAQ-DI score, older age, male gender and the risk of developing PNP.  Conclusion: The development of PNP in patients with SSc is most likely due to ageing, natural progression and the sequelae of the disease. Several serum biomarkers—NfL, GFAP and GDF15—could be used as relevant diagnostic biomarkers for PNP in patients with SSc. Future studies are warranted to validate the diagnostic efficacy of these biomarkers and to unravel the complex interplay of factors leading to PNP in patients with SSc.