Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS.
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.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: rademakers.rosa@mayo.edu.
Rosa
R
Rademakers
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Marka
M
van Blitterswijk
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*
C533522:TUBA1A protein, human; D014404:Tubulin