47
Views
0
CrossRef citations to date
0
Altmetric
Original Research Articles

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes

, ORCID Icon, , , , , , , & ORCID Icon show all
Pages 124-130 | Received 07 Feb 2023, Accepted 03 Nov 2023, Published online: 18 Dec 2023

References

  • Airoldi, G., Guidarelli, A., Cantoni, O., Panzeri, C., Vantaggiato, C., Bonato, S., Angelo, M. G. D., Falcone, S., Palma, C. D., Tonelli, A., Crimella, C., Bondioni, S., Bresolin, N., Clementi, E., & Bassi, M. T. (2010). Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. Neurogentics. 11(1), 91–100. doi: 10.1007/s10048-009-0206-0.
  • Anheim, M., Fleury, M. C., Franques, J., Moreira, M. C., Delaunoy, J. P., Stoppa-Lyonnet, D., Koenig, M., & Tranchant, C M. (2008). Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Archives of Neurology, 65(7), 958–962. doi: 10.1001/archneur.65.7.958.
  • Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Sequeiros, J., Goizet, C., & Marelli, C. (2009). Ataxia with oculomotor apraxia type 2 : Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. brain. 132(Pt 10), 2688–2699. doi: 10.1093/brain/awp211.
  • Bellayou, H., Dehbi, H., Bourezgui, M., Slassi, I., & Nadifi, S. (2009). Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco. Pathologie-biologie, 57(5), 425–426. doi: 10.1016/j.patbio.2008.09.014.
  • Benomar, A., Yahyaoui, M., Meggouh, F., Bouhouche, A., Boutchich, M., Bouslam, N., Zaim, A., Schmitt, M., Belaidi, H., Ouazzani, R., Chkili, T., & Koenig, M. (2002). Clinical comparison between AVED patients with 744 del a mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. Journal of the Neurological Sciences, 198(1-2), 25–29. doi: 10.1016/S0022-510X(02)00057-6.
  • Bernard, V., Stricker, S., Kreuz, F., Minnerop, M., Gillessen-Kaesbach, G., & Zühlke, C. (2008). Ataxia with oculomotor apraxia type 2 : Novel mutations in six patients with juvenile age of onset and elevated serum α-fetoprotein. Neuropediatrics, 39(6), 347–350. doi: 10.1055/s-0029-1214424.
  • Bouhlal, Y., Zouari, M., Kefi, M., Hamida, C. B., Hentati, F., & Amouri, R. (2008). Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. Journal of Neurogenetics, 22(2), 139–148. doi: 10.1080/01677060802025233.
  • Cavalier, L., Ouahchi, K., Kayden, H. J., Donato, S. D., Reutenauer, L., Mandel, J., & Koenig, M. (1998). Ataxia with isolated vitamin E deficiency : Heterogeneity of mutations and phenotypic variability in a large number of families. American Journal of Human Genetics, 62(2), 301–310. doi: 10.1086/301699.
  • Criscuolo, C., Chessa, L., Giandomenico, S. D., Mancini, P., & Sacca, F. (2006). Ataxia with oculomotor apraxia type 2 A clinical, pathologic, and genetic study. Neurology, 66(8), 1207–1211. doi: 10.1212/01.wnl.0000208402.10512.4a.
  • Delatycki, M. B., & Corben, L. (2012). Clinical features of Friedreich ataxia. Journal of Child Neurology, 27(9), 1133–1137. doi: 10.1177/0883073812448230.Clinical.
  • Di Donato, I., Bianchi, S., & Federico, A. (2010). Ataxia with vitamin e deficiency : Update of molecular diagnosis. Neurological Sciences, 31(4), 511–515. doi: 10.1007/s10072-010-0261-1.
  • Elkamil, A., Johansen, K. K., & Aasly, J. (2015). Ataxia with vitamin e deficiency in orway. Journal of Movement Disorders, 8(1), 33–36. doi: 10.14802/jmd.14030.
  • Euch-Fayache, G. E., Bouhlal, Y., Amouri, R., Feki, M., & Hentati, F. (2014a). Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain : A Journal of Neurology, 137(Pt 2), 402–410. doi: 10.1093/brain/awt339.
  • Euch-Fayache, G. E., Bouhlal, Y., Amouri, R., Feki, M., & Hentati, F. (2014b). Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain: A Journal of Neurology, 137(Pt 2), 402–410. doi: 10.1093/brain/awt339.
  • Fendri, K., Kefi, M., Hentati, F., & Amouri, R. (2006). Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes. Neuromuscular Disorders: Nmd, 16(5), 316–320. doi: 10.1016/j.nmd.2006.02.007.
  • Fogel, B. L. (2018). Autosomal-recessive cerebellar ataxias. In Handbook of Clinical Neurology., (3rd series) Neurogenetics, Part I (1st éd., Vol. 147). Elsevier B.V. doi: 10.1016/B978-0-444-63233-3.00013-0.
  • Hammer, M. B., Euch-Fayache, G. E., Nehdi, H., Saidi, D., Nasri, A., Nabli, F., Bouhlal, Y., Maamouri-Hicheri, W., Hentati, F., & Amouri, R, & Abstract: (2012). Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic Molecular Pathology: The American Journal of Surgical Pathology, Part B, 21(4), 241–245. doi: 10.1097/PDM.0b013e318257ad9a.
  • Mariotti, C., Gellera, C., Rimoldi, M., Mineri, R., Uziel, G., Zorzi, G., Pareyson, D., Piccolo, G., Gambi, D., Piacentini, S., Squitieri, F., Capra, R., Castellotti, B., & Di Donato, S. (2004). Ataxia with isolated vitamin E deficiency : Neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families. Neurological Sciences, 25(3), 130–137. doi: 10.1007/s10072-004-0246-z.
  • Marzouki, N., Benomar, A., Yahyaoui, M., Birouk, N., Elouazzani, M., Chkili, T., & Benlemlih, M. (2005). Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene : Genetic and clinical peculiarities in Moroccan patients. European Journal of Medical Genetics, 48(1), 21–28. doi: 10.1016/j.ejmg.2005.01.014.
  • Nakamura, K., Yoshida, K., Makishita, H., Kitamura, E., Hashimoto, S., & Ikeda, S. (2009). A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). Journal of Human Genetics, 54(12), 746–748. doi: 10.1038/jhg.2009.104.
  • Romdhane, L., Collaborators., & Abdelhak, S. (2011). Genetic diseases in the Tunisian population. American Journal of Medical Genetics. Part A, 155A(1), 238–267. doi: 10.1002/ajmg.a.33771.
  • Schmitz-Hübsch, T. (2006). Scale for the assessment and rating of ataxia (SARA). Neurology, 1:95–99. doi: 10.1016/B978-0-12-374105-9.00534-7.
  • Synofzik, M., & Németh, A. H. (2018). Recessive ataxias. Handbook of Clinical Neurology, 155, 73–89. doi: 10.1016/B978-0-444-64189-2.00005-6.
  • Szpisjak, L., Obal, I., Engelhardt, J. I., Vecsei, L., & Klivenyi, P. (2016). A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. Acta Neurologica Belgica, 116(3), 405–407. doi: 10.1007/s13760-015-0569-y.
  • Tariq, H., Imran, R., & Naz, S. (2018). A novel homozygous variant of setx causes ataxia with oculomotor apraxia type 2. Journal of Clinical Neurology (Seoul, Korea), 14(4), 498–504. doi: 10.3988/jcn.2018.14.4.498.
  • Tazir, M., Ali-Pacha, L., Zahem, A. M., Delaunoy, J. P., Fritsch, M., Nouioua, S., Benhassine, T., Assami, S., Grid, D., Vallat, J. M., Hamri, A., & Koenig, M. (2009). Journal of the Neurological Sciences Ataxia with oculomotor apraxia type 2 : A clinical and genetic study of 19 patients. Journal of the Neurological Sciences, 278(1-2), 77–81. doi: 10.1016/j.jns.2008.12.004.
  • Zlotogora, J. (2007). Multiple mutations responsible for frequent genetic diseases in isolated populations. European Journal of Human Genetics : Ejhg, 15(3), 272–278. doi: 10.1038/sj.ejhg.5201760.
  • Zouari, M., Feki, M., Ben Hamida, C., Larnaout, A., Turki, I., Belal, S., Mebazaa, A., Ben Hamida, M., & Hentati, F. (1998). Electrophysiology and nerve biopsy : Comparative study in Friedreich’s ataxia and Friedreich’s ataxia phenotype with vitamin E deficiency. Neuromuscular Disorders, 8(6), 416–425. doi: 10.1016/S0960-8966(98)00051-0.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.