Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2018 Jan 1;141(1):e1.
doi: 10.1093/brain/awx290.

POLR3A variants in hereditary spastic paraplegia and ataxia

Laurence Gauquelin  1   2 , Martine Tétreault  3   4 , Isabelle Thiffault  5 , Emily Farrow  5 , Neil Miller  5 , Byunggil Yoo  5 , Eric Bareke  3   4 , Grace Yoon  6   7 , Oksana Suchowersky  8 , Nicolas Dupré  9 , Mark Tarnopolsky  10 , Bernard Brais  3   11 , Nicole I Wolf  12 , Jacek Majewski  3   4 , Guy A Rouleau  11 , Ziv Gan-Or  3   11 , Geneviève Bernard  1   2   13   14
Affiliations
Comment

POLR3A variants in hereditary spastic paraplegia and ataxia

Laurence Gauquelin et al. Brain. .
No abstract available

PubMed Disclaimer

Comment in

Comment on

  • Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
    Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.

References

    1. Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, et al. Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Hum Mol Genet 2016; 25: 4302–14. - PubMed
    1. Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010; 11: 457–64. - PMC - PubMed
    1. Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, et al. POLR3A and POLR3B mutations in unclassified hypomyelination. Neuropediatrics 2015; 46: 221–8. - PubMed
    1. La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Ounap K, et al. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 2016; 86: 1622–6. - PMC - PubMed
    1. La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, et al. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol 2014; 29: 214–20. - PubMed

Supplementary concepts