References
Mantuano E et al (2003) Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Cytogenet Genome Res 100(1–4):147–153
Cardiff University (2017) The Human Gene Mutation Database. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CACNA1A (20 March 2017)
Wada T et al (2002) Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. Pediatr Neurol 26(1):47–50
Pradotto L et al (2016) Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. J Neurol Sci 371:81–84
Romaniello R et al (2010) A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. J Neurol Neurosurg Psychiatry 81(8):840–843
Epi4K Consortium (2016) De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet 99(2):287–298
The Exome Aggregation Consortium (ExAC) (2017) Variant: 19:13410043 G/T. http://exac.broadinstitute.org/variant/19-13410043-G-T (20 March 2017)
Kircher M et al (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46(3):310–315
Gomez C (2017) Spinocerebellar Ataxia Type 6. GeneReviews® 1998 Oct 23. https://www.ncbi.nlm.nih.gov/books/NBK1140/ (updated 2013 July 18, March 20, 2017)
Acknowledgements
This work was supported by the German Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B, to KL, AM), the Foundation of the University Medical Center Schleswig–Holstein “Gutes Tun!” (AM) and the Possehl-Stiftung (Lübeck, AM).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflicts of interest
The authors have no disclosures relevant to the manuscript.
Financial relations
Katja Lohmann has been receiving grants from the German Research Foundation (DFG) and the German Federal Ministry of Education and Research (BMBF, DYSTRACT consortium). Alexander Münchau: Commercial research support by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion; Honoraria for lectures from Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin and Teva. Support from the Possehl-Stiftung, Lübeck; the Margot und Jürgen Wessel Stiftung, Lübeck; Tourette Syndrome Association (Germany); European Huntington Disease Network; Academic research support: Multicentre Tics in Children Studies (EMTICS) as part of the FP 7 program (HEALTH.2011.2.2.1-3); Deutsche Forschungsgemeinschaft (DFG): Projects 1692/3-1, 4-1, SFB 936; Bundesministerium für Bildung und Forschung (BMBF): DysTract consortium. Innovationsausschuss of the Gemeinsamer Bundesausschuss: Translate NAMSE (structural support for the Lübeck Center for Rare Diseases); Royalties from the publication of the book Neurogenetics (Oxford University Press).
Ethical standards
Ethical approval for this study was obtained from the local ethics committee (Ref. 11-021).
Informed consent
informed consent was obtained from each involved patient.
Rights and permissions
About this article
Cite this article
Balck, A., Hanssen, H., Hellenbroich, Y. et al. Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A. J Neurol 264, 1520–1522 (2017). https://doi.org/10.1007/s00415-017-8494-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-017-8494-z