Format

Send to

Choose Destination
JAMA Neurol. 2016 Dec 1;73(12):1485-1490. doi: 10.1001/jamaneurol.2016.3097.

Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.

Author information

1
Department of Neurology, University of California, San Francisco.
2
Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois3Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

Abstract

Importance:

The hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its connections. Even though these diseases historically have been among the first familial disorders of the nervous system to have been recognized, progress in the field has been challenging because of the large number of ataxic genetic syndromes, many of which overlap in their clinical features.

Observations:

We have taken a historical approach to demonstrate how our knowledge of the genetic basis of ataxic disorders has come about by novel techniques in gene sequencing and bioinformatics. Furthermore, we show that the genes implicated in ataxia, although seemingly unrelated, appear to encode for proteins that interact with each other in connected functional modules.

Conclusions and Relevance:

It has taken approximately 150 years for neurologists to comprehensively unravel the genetic diversity of ataxias. There has been an explosion in our understanding of their molecular basis with the arrival of next-generation sequencing and computer-driven bioinformatics; this in turn has made hereditary ataxias an especially well-developed model group of diseases for gaining insights at a systems level into genes and cellular pathways that result in neurodegeneration.

PMID:
27749953
PMCID:
PMC5513693
DOI:
10.1001/jamaneurol.2016.3097
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Silverchair Information Systems Icon for PubMed Central
Loading ...
Support Center