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We thank Gauquelin et al. (2017) for their interesting letter regarding our recent publication ‘Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia’ (Minnerop et al., 2017). The authors of the letter question the pathogenic relevance of the novel hypomorphic intronic POLR3A variant, which we observed in a total of 19 independent families. Gauquelin et al. suspected undetected mutations in other HSP and ataxia genes in at least a subset of our families, while at the same time arguing that the phenotype we reported in those very same families falls well within the spectrum of POLR3-related disease and should rather be classified as atypical POLR3-related disease. They put forth clinical as well as genetic arguments to support...

Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T1/T2/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection ( P corrected