Millere, E;
Rots, D;
Glazere, I;
Taurina, G;
Kurjane, N;
Priedite, V;
Gailite, L;
... Kenina, V; + view all
(2021)
Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.
Frontiers in Neurology |
, 11
, Article 586610. 10.3389/fneur.2020.586610.
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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.
| Type: | Article |
|---|---|
| Title: | Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fneur.2020.586610 |
| Publisher version: | https://doi.org/10.3389/fneur.2020.586610 |
| Language: | English |
| Additional information: | © 2021 Millere, Rots, Glazere, Taurina, Kurjane, Priedite, Gailite, Blennow, Zetterberg and Kenina. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Kennedy disease, spinal and bulbar muscular atrophy, phenotype, clinical features, biomarker, neurofilament |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10122938 |
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