Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients

2007114 citationsJournal Article

Authors

Irene De Biase · University of Oklahoma Health Sciences Center

Astrid Rasmussen · University of Oklahoma Health Sciences Center

Dan Endres · University of Central Oklahoma

Sahar Al‐Mahdawi · Brunel University of London

Antonella Monticelli · University of Naples Federico II

Sergio Cocozza · University of Naples Federico II

Mark A. Pook

Abstract

Progressive pathology involving the DRGs is likely due to age-dependent accumulation of large expansions of the GAA triplet-repeat sequence. Thus, somatic instability of the expanded GAA triplet-repeat sequence may contribute directly to disease pathogenesis and progression. Progressive repeat expansion in specific tissues is a common theme in the pathogenesis of triplet-repeat diseases.

Topics & Keywords

Genetic Neurodegenerative Diseases Mitochondrial Function and Pathology Hereditary Neurological Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 61, Issue 1, pp. 55-60

DOI: 10.1002/ana.21052

Field-Weighted Citation Impact: 2.20