Degenerative Ataxias: challenges in clinical research.

ABSTRACT: The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of the causation of disease in a sizeable proportion of these patients. The overall rarity of ataxias as a whole and certainly of the individual genetic entities together with slow and variable progression and variable prognosis in juxtaposition with a rapid development of possible therapies in the horizon such as gene replacement and gene knock-down strategies places the ataxias in a unique position di

SUBMITTER: Subramony SH 

PROVIDER: S-EPMC5221462 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature