References
Le Ber I, Bouslam N, Rivaud-Pechoux S et al (2004) Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 127:759–767
Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M et al (2009) Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132:2688–2698
Tazir M, Ali-Pacha L, M’Zahem A, Delaunoy JP, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat JM, Hamri A, Koenig M (2009) Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci 278:77–81
Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C (2013) SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet J Rare Dis 8:123
Datta N, Hohler A (2013) A new SETX mutation producing AOA2 in two siblings. Int J Neurosci 123:670–673
Ghrooda S, Borys A, Spriggs E, Hegde M, Mhanni A (2012) SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2. Parkinsonism Relat Disord 18:700–701
Acknowledgments
This work was supported by KTIA Grant No. 13 NAP-A-II/17.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Ethical approval
This study was approved by the ethical Committee of the Faculty of Medicine, University of Szeged.
Informed consent
Written informed consent was obtained from the patient for publication of this case report for educational purposes.
Rights and permissions
About this article
Cite this article
Szpisjak, L., Obal, I., Engelhardt, J.I. et al. A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. Acta Neurol Belg 116, 405–407 (2016). https://doi.org/10.1007/s13760-015-0569-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13760-015-0569-y