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. 2021 Jan 20:11:586610.
doi: 10.3389/fneur.2020.586610. eCollection 2020.

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Elina Millere  1   2   3 , Dmitrijs Rots  3 , Ieva Glazere  4   5 , Gita Taurina  6 , Natalja Kurjane  5   7 , Viktorija Priedite  8 , Linda Gailite  3 , Kaj Blennow  9   10 , Henrik Zetterberg  9   10   11   12 , Viktorija Kenina  5   13
Affiliations

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Elina Millere et al. Front Neurol. .

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.

Keywords: Kennedy disease; biomarker; clinical features; neurofilament; phenotype; spinal and bulbar muscular atrophy.

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Conflict of interest statement

VP was employed by BIOCON Medical Laboratory, LCC BIOCON. HZ has served at scientific advisory boards for Denali, Roche Diagnostics, Wave, Samumed, Siemens Healthineers, Pinteon Therapeutics, and CogRx, has given lectures in symposia sponsored by Fujirebio, Alzecure, and Biogen, and is a co-founder of Brain Biomarker Solutions in Gothenburg AB (BBS), which is a part of the GU Ventures Incubator Program (outside submitted work). The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Facial muscle weakness and tongue atrophy.
See this image and copyright information in PMC

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