References
- Aicardi, J., Barbosa, C., Andermann, E., Andermann, F., Morcos, R., Ghanem, Q., … Ukuyama, Y., (1988). Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Annals of Neurology, 24, 497–502. http://dx.doi.org/10.1002/ana.410240404
- Al Tassan, N., Khalil, D., Shinwari, J., Al Sharif, L., Bavi, P., & Abduljaleel, Z. (2012). A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Human Mutation, 33, 351–354.http://dx.doi.org/10.1002/humu.21650
- Bomont, P., Watanabe, M., Gershoni-Barush, R., Shizuka, M., Tanaka, M., Sugano, J., … Uiraud-Chaumeil, C., (2000). Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. European Journal of Human Genetics, 8, 986–990. http://dx.doi.org/10.1038/sj.ejhg.5200586
- Bras, J., Alonso, I., Barbot, C., Costa, M., Darwent, L., Orme, T., … Guerreiro, R. (2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics, 96, 474–479. http://dx.doi.org/10.1016/j.ajhg.2015.01.005
- Coutinho, P., Ruano, L., Loureiro, J.L., Cruz, V.T., Barros, J., & Tuna, A. (2013). Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study . JAMA Neurology, 70, 746–755.http://dx.doi.org/10.1001/jamaneurol.2013.1707
- Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., … Tsuji, S. (2001). Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genetics, 29, 184–188. http://dx.doi.org/10.1038/ng1001-184
- Le Ber, I., Bouslam, N., Rivaud-Pechoux, S., Guuimaraes, J., Benomar, A., Chamayou, C., … Dürr, A. (2004). Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients. Brain, 127, 759–767. http://dx.doi.org/10.1093/brain/awh080
- Moreira, M.C., Barbot, C., Tachi, N., Kozuka, N., Mondonca, P., & Barros, J., … Koenig, M. (2001). Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. American Journal of Human Genetics, 68, 501–508.
- Nemeth, A.H., Bochukova, E., Dunne, E., Huson, S.M., Elston, J., Hannan, M.A., … Ackson, M., (2000). Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. American Journal of Human Genetics, 67, 1320–1326. http://dx.doi.org/10.1016/S0002-9297(07)62962-0
- Paucar, M., Malmgren, H., Taylor, M., Reynolds, J.J., Svenningsson, P., Press, R., & Nordgren, A. (2016). Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurology Genetics, 2, e49. http://dx.doi.org/10.1212/NXG.0000000000000049
- Pedroso, J.L., Rocha, C., Macedo-Souza, L.I., De Mario, V., Marques, W., Barsottini, O., … Ulle Oliveira, A.S., (2015). Mutation in PNKP presenting initially as axonal charcot–marie–tooth disease. Neurology Genetics, 1, e30. http://dx.doi.org/10.1212/NXG.0000000000000030
- Tzoulis, C., Sztromwasser, P., Johnasson, S., Gjerde, I.O., Knappskog, P., & Bindoff, L.A. (2017). PNKP mutations identified by whole-exome sequencing in a Norweigian patient with sporadic ataxia and edema. Cerebellum, 16, 272–275.http://dx.doi.org/10.1007/s12311-016-0784-y