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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.

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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
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
URI: http://discovery.ucl.ac.uk/id/eprint/10048546
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