This title appears in the Scientific Report :
2018
Please use the identifier:
http://hdl.handle.net/2128/17133 in citations.
Please use the identifier: http://dx.doi.org/10.1093/brain/awx291 in citations.
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia
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...
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Personal Name(s): | Minnerop, Martina |
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Kurzwelly, D. / Rattay, T. W. / Timmann, D. / Hengel, H. / Synofzik, M. / Stendel, C. / Horvath, R. / Schüle, R. / Ramirez, A. (Corresponding author) | |
Contributing Institute: |
Strukturelle und funktionelle Organisation des Gehirns; INM-1 |
Published in: | Brain, 141 (2018) 1, S. e2 |
Imprint: |
Oxford
Oxford Univ. Press
2018
|
PubMed ID: |
29236946 |
DOI: |
10.1093/brain/awx291 |
Document Type: |
Journal Article |
Research Program: |
Connectivity and Activity |
Link: |
OpenAccess OpenAccess |
Publikationsportal JuSER |
Please use the identifier: http://dx.doi.org/10.1093/brain/awx291 in citations.
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... |