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

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.

C

SUBMITTER: Didonna A 

PROVIDER: S-EPMC5513693 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature