SnapShot: Biology of Genetic Ataxias

Ilse Eidhof; Bart P van de Warrenburg; Annette Schenck

doi:10.1016/j.cell.2018.10.017

SnapShot: Biology of Genetic Ataxias

Cell. 2018 Oct 18;175(3):890-890.e1. doi: 10.1016/j.cell.2018.10.017.

Authors

Ilse Eidhof¹, Bart P van de Warrenburg², Annette Schenck¹

Affiliations

¹ Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
² Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

PMID: 30340048
DOI: 10.1016/j.cell.2018.10.017

Abstract

Genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. This SnapShot shows that the vast majority of established monogenic causes of dominant and recessive ataxias can be captured by a limited number of affected cellular components and biological processes in the cerebellum. To view this SnapShot, open or download the PDF.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Cerebellar Ataxia / genetics*
Cerebellar Ataxia / metabolism
DNA Repair
Humans
Ion Transport
Purkinje Cells / metabolism