Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

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dc.contributor.authorMillere, Elīna
dc.contributor.authorRots, Dmitrijs
dc.contributor.authorGlāzere, Ieva
dc.contributor.authorTauriņa, Gita
dc.contributor.authorKurjāne, Nataļja
dc.contributor.authorPriedīte, Viktorija
dc.contributor.authorGailīte, Linda
dc.contributor.authorBlennov, Kaj
dc.contributor.authorZetterberg, Henrik
dc.contributor.authorĶēniņa, Viktorija
dc.contributor.institutionDepartment of Doctoral Studies
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionDepartment of Biology and Microbiology
dc.date.accessioned2021-04-12T13:55:01Z
dc.date.available2021-04-12T13:55:01Z
dc.date.issued2021-01-20
dc.descriptionFunding Information: HZ is a Wallenberg Scholar supported by grants from the Swedish Research Council (#2018-02532), the European Research Council (#681712), Swedish State Support for Clinical Research (#ALFGBG-720931), the Alzheimer Drug Discovery Foundation (ADDF), USA (#201809-2016862), the UK Dementia Research Institute at UCL, and Riga Stradins University Internal grant No. 131005. Publisher Copyright: © Copyright © 2021 Millere, Rots, Glazere, Taurina, Kurjane, Priedite, Gailite, Blennow, Zetterberg and Kenina.
dc.description.abstractBackground: 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.en
dc.description.statusPeer reviewed
dc.format.extent8
dc.format.extent548396
dc.identifier.citationMillere, E, Rots, D, Glāzere, I, Tauriņa, G, Kurjāne, N, Priedīte, V, Gailīte, L, Blennov, K, Zetterberg, H & Ķēniņa, V 2021, 'Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy', Frontiers in Neurology, vol. 11, 586610. https://doi.org/10.3389/fneur.2020.586610
dc.identifier.doi10.3389/fneur.2020.586610
dc.identifier.issn1664-2295
dc.identifier.otherMendeley: e7b925b4-060f-3cd0-85aa-202d7d2d7e6a
dc.identifier.otherunpaywall: 10.3389/fneur.2020.586610
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/3774
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85100572063&partnerID=8YFLogxK
dc.identifier.urlhttps://www.frontiersin.org/articles/10.3389/fneur.2020.586610/abstract
dc.language.isoeng
dc.relation.ispartofFrontiers in Neurology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectKennedy disease
dc.subjectspinal and bulbar muscular atrophy
dc.subjectphenotype
dc.subjectclinical features
dc.subjectbiomarker
dc.subjectNeurofilament
dc.subject1.6 Biological sciences
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.titleClinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophyen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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