Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Elīna Millere, Dmitrijs Rots, Ieva Glāzere, Gita Tauriņa, Nataļja Kurjāne, Viktorija Priedīte, Linda Gailīte, Kaj Blennov, Henrik Zetterberg, Viktorija Ķēniņa (Coresponding Author)

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number586610
Number of pages8
JournalFrontiers in Neurology
Volume11
DOIs
Publication statusPublished - 20 Jan 2021

Keywords

  • Kennedy disease
  • spinal and bulbar muscular atrophy
  • phenotype
  • clinical features
  • biomarker
  • Neurofilament

Field of Science

  • 1.6 Biological sciences
  • 3.2 Clinical medicine

Publication Type

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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