UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Advances in the understanding of hereditary ataxia - implications for future patients

Zeitlberger, A; Ging, H; Nethisinghe, S; Giunti, P; (2018) Advances in the understanding of hereditary ataxia - implications for future patients. Expert Opinion on Orphan Drugs , 6 (3) pp. 203-217. 10.1080/21678707.2018.1444477. Green open access

[thumbnail of Zeitlberger 2018.pdf]
Preview
Text
Zeitlberger 2018.pdf - Accepted Version

Download (565kB) | Preview

Abstract

INTRODUCTION: Hereditary ataxias are caused by mutations in a plethora of different genes. Advances in sequencing technologies have led to an exponential increase in novel gene discoveries, highlighted the genetic overlap with other neurological diseases and improved our understanding of genotype-phenotype relationships. Together, these developments allowed the identification of new therapeutic targets that are subsequently making their way into clinical trials. AREAS COVERED: This review focuses on the shared genetic characteristics and the latest insights into the molecular cause of the most prevalent hereditary ataxias. Furthermore, conventional genetic diagnosis and the gradual implementation of next-generation sequencing (NGS) approaches in clinical practice is discussed. Finally, the latest investigated disease-modifying therapeutic agents are reviewed. A literature search was performed in PubMed and the Cochrane Library. Additional information on previous and on-going trials was obtained from the ClinicalTrials.gov website. EXPERT OPINION: The implementation of NGS in clinical practice has led to an increase in detected sequence variants of unknown clinical significance. Determining their pathogenicity is an expensive and time-consuming process. In accordance with the progresses in genetics, there is a need for the simultaneous definition of novel biomarkers and functional assays that can assist in the interpretation of genetic tests.

Type: Article
Title: Advances in the understanding of hereditary ataxia - implications for future patients
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/21678707.2018.1444477
Publisher version: http://dx.doi.org/10.1080/21678707.2018.1444477
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Pharmacology & Pharmacy, Anticipation, biomarkers, hereditary ataxia, next-generation sequencing, gene panels, polyglutamine diseases, trinucleotide expansions, MACHADO-JOSEPH-DISEASE, AMYOTROPHIC-LATERAL-SCLEROSIS, CONGENITAL CEREBELLAR-ATAXIA, PLACEBO-CONTROLLED TRIAL, SPINAL MUSCULAR-ATROPHY, MESENCHYMAL STEM-CELLS, DORSAL-ROOT GANGLIA, SPINOCEREBELLAR ATAXIA, FRIEDREICH ATAXIA, TRINUCLEOTIDE REPEAT
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10048546
Downloads since deposit
222Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item