Molecular genetic testing for hereditary ataxia-What every neurologist should know

Stephanie E. Wallace, Thomas D. Bird Neurology: Clinical Practice Feb 2018, 8 (1) 27-32; DOI: 10.1212/CPJ.0000000000000421

The majority of individuals with hereditary ataxias have nucleotide repeat expansions, pathogenic variants that are not detectable with clinical exome sequencing. Multigene panels that include specific assays to determine nucleotide repeat lengths should be considered first in individuals with hereditary ataxia.