Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
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Date
2021-01-20
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Abstract
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.
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Funding 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.
Keywords
Kennedy disease, spinal and bulbar muscular atrophy, phenotype, clinical features, biomarker, Neurofilament, 1.6 Biological sciences, 3.2 Clinical medicine, 1.1. Scientific article indexed in Web of Science and/or Scopus database
Citation
Millere, 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