This article is part of the Research Topic Psychiatric Genetics, Neurogenetics and Neurodegeneration

Review ARTICLE

Front. Genet., 14 May 2012 | doi: 10.3389/fgene.2012.00075

The use of next-generation sequencing in movement disorders

  • 1 Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
  • 2 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
  • 3 Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA
  • 4 The Friedman Brain Institute, Mount Sinai School of Medicine, New York, NY, USA

New advances in genomic technology are being introduced at a greater speed and are revolutionizing the field of genetics for both complex and Mendelian diseases. For instance, during the past few years, genome-wide association studies (GWAS) have identified a large number of significant associations between genomic loci and movement disorders such as Parkinson’s disease and progressive supranuclear palsy. GWAS are carried out through the use of high-throughput SNP genotyping arrays, which are also used to perform linkage analyses in families previously considered statistically underpowered for genetic analyses. In inherited movement disorders, using this latter technology, it has repeatedly been shown that mutations in a single gene can lead to different phenotypes, while the same clinical entity can be caused by mutations in different genes. This is being highlighted with the use of next-generation sequencing technologies and leads to the search for genes or genetic modifiers that contribute to the phenotypic expression of movement disorders. Establishing an accurate genome–epigenome–phenotype relationship is becoming a major challenge in the post-genomic research that should be facilitated through the implementation of both functional and cellular analyses. In this review, we summarize the latest genetic discoveries made by the use of NGS technologies and purpose future directions and challenges to truly understand the pathophysiology of MDs.

Keywords: next-generation sequencing, movement disorders, gene discovery, novel neurological phenotypes

Citation: Krebs CE and Paisán-Ruiz C (2012) The use of next-generation sequencing in movement disorders. Front. Gene. 3:75. doi: 10.3389/fgene.2012.00075

Received: 15 February 2012; Paper pending published: 27 February 2012;
Accepted: 21 April 2012; Published online: 14 May 2012.

Edited by:

Berit Kerner, University of California Los Angeles, USA

Reviewed by:

Berit Kerner, University of California Los Angeles, USA
Yijin Yan, The University of Chicago Medical Center, USA

Copyright: © 2012 Krebs and Paisán-Ruiz. This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License, which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.

*Correspondence: Coro Paisán-Ruiz, Department of Neurology, Mount Sinai School of Medicine, Box 1137, 1468 Madison Avenue, Room A22-24C, New York, NY 10029, USA. e-mail: coro.paisan-ruiz@mssm.edu

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