Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS

Rosa Rademakers; Marka van Blitterswijk

doi:10.1016/j.neuron.2014.10.002

Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS

Neuron. 2014 Oct 22;84(2):241-3. doi: 10.1016/j.neuron.2014.10.002. Epub 2014 Oct 22.

Authors

Rosa Rademakers¹, Marka van Blitterswijk²

Affiliations

¹ Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: rademakers.rosa@mayo.edu.
² Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

PMID: 25374348
DOI: 10.1016/j.neuron.2014.10.002

Abstract

Identifying disease genes implicated in late-onset neurodegenerative disorders can be challenging due to the lack of DNA samples from multiple affected family members. To overcome this limitation, Smith et al. (2014) report in this issue of Neuron the first exome-wide rare variant analysis in unrelated familial amyotrophic lateral sclerosis (ALS) patients associating TUBA4A with ALS.

Publication types

Comment

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Exome / genetics*
Genetic Predisposition to Disease*
Humans
Mutation / genetics*
Tubulin / genetics*

Substances

TUBA1A protein, human
Tubulin