Neurol. praxi. 2025;26(1):31-36 | DOI: 10.36290/neu.2024.070

Hereditary ataxias with onset after the age of 50

doc. MUDr. Martin Vyhnálek, Ph.D.¹, MUDr. Emílie Vyhnálková, Ph.D.², MUDr. Simona Karamazovová¹, MUDr. Zuzana Blichová¹, MUDr. Michaela Kuzmiak, Ph.D.¹, MUDr. Jaroslava Paulasová-Schwabová, Ph.D.¹

¹ Centrum hereditárních ataxií, Neurologická klinika 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

² Centrum hereditárních ataxií, Ústav biologie a lékařské genetiky 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

Chronic ataxias with onset after the age of 50 differ significantly from ataxias with childhood or early adulthood onset. This article focuses on late-onset hereditary ataxias, particularly on new subtypes such as CANVAS (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome) and SCA27B (Spinocerebellar Ataxia type 27B). It describes their clinical manifestations and diagnostic methods, including genetic testing and differential diagnosis against other sporadic ataxias, such as Multiple system atrophy type C. We present the main principles of diagnosing hereditary ataxias and the diagnostic approach used at the Center of Hereditary Ataxias at the Motol University Hospital, which includes a combination of laboratory, imaging, and genetic tests that allow for the exclusion of acquired causes and a pragmatic diagnosis of hereditary diseases.

Keywords: hereditary ataxia, CANVAS, SCA27B, FXTAS, multiple system atrophy type C, genetic diagnostics, neurodegenerative diseases.

Received: October 28, 2024; Revised: October 28, 2024; Accepted: October 30, 2024; Prepublished online: October 30, 2024; Published: March 19, 2025  Show citation