AUTHOR=Millere Elina , Rots Dmitrijs , Glazere Ieva , Taurina Gita , Kurjane Natalja , Priedite Viktorija , Gailite Linda , Blennow Kaj , Zetterberg Henrik , Kenina Viktorija 

TITLE=Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

JOURNAL=Frontiers in Neurology

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.586610

DOI=10.3389/fneur.2020.586610

ISSN=1664-2295

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Methods:</bold> We deeply phenotyped and evaluated the possible extent of affected systems in all patients with SBMA in Latvia (<italic>n</italic> = 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.</p><p><bold>Results:</bold> 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.</p><p><bold>Conclusion:</bold> 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.</p>