Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

References

• Adzhubei, I. A, Schmidt, S, Peshkin, L, Ramensky, V. E, Gerasimova, A, Bork, P, & Sunyaev, S. R. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7(4), 248-249. doi:10.1038/nmeth0410-248
   PubMed Web of Science ®Google Scholar
• Balreira, A., Boczonadi, V., Barca, E., Pyle, A., Bansagi, B., Appleton, M., … Horvath, R. (2014). ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology, 261, 2192–2198. doi:10.1007/s00415-014-7476-7
   PubMed Web of Science ®Google Scholar
• Benedet, M. J., Alejandre, M. Á., & Pamos, A. (1998). Test de Aprendizaje Verbal España-Complutense Infantil. Madrid: TEA Ediciones.
   Google Scholar
• Benton, A., Hamsher, K., & Sivan, A. (1989). Multilingual aphasia examination (2nd ed.). Iowa City: University of Iowa.
   Google Scholar
• Benton, A. L., Sivan, A. B., Hamsher, K., Varney, N. R., & Spreen, O. (1983). Contribution to neuropsychological assessment. New York, NY: Oxford University Press.
   Google Scholar
• Buckner, R. L. (2013). The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging. Neuron, 80(3), 807-815. doi: 10.1016/j.neuron.2013.10.044
   PubMed Web of Science ®Google Scholar
• Chamard, L., Sylvestre, G., Koenig, M., & Magnin, E. (2016). Executive and attentional disorders, epilepsy and porencephalic cyst in autosomal recessive cerebellar ataxia type 3 due to ANO10 mutation. European Neurology, 75, 186–190. doi:10.1159/000445109
   PubMed Web of Science ®Google Scholar
• Chamova, T., Florez, L., Guergueltcheva, V., Raycheva, M., Kaneva, R., Lochmüller, H., … Tournev, I. (2012). ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. Journal of Neurology, 259, 906–911. doi:10.1007/s00415-011-6276-6
   PubMed Web of Science ®Google Scholar
• Delis, D. C., Kramer, J. H., Kaplan, E., & Ober, B. A. (1987). The California verbal learning test: Research edition, adult version. San Antonio, TX: The Psychological Corporation
   Google Scholar
• Emmanuele, V., López, L. C., López, L., Berardo, A., Naini, A., Tadesse, S., … Hirano, M. (2012). Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Archives of Neurology, 69, 978–983. doi:10.1001/archneurol.2012.206
   PubMed Web of Science ®Google Scholar
• Erlenmeyer-Kimling, L., Squires-Wheeler, E., Adamo, U. H., Bassett, A. S., Cornblatt, B. A., Kestenbaum, C. J., … Gottesman, I. I. (1995). The New York High-Risk Project. Psychoses and cluster A personality disorders in offspring of schizophrenic parents at 23 years of follow-up. Archives of General Psychiatry, 52, 857–865. doi:10.1016/j.neuron.2013.10.044.
   Google Scholar
• Ewing, B., & Green, P. (1998). Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Research, 8, 186–194.
   PubMed Web of Science ®Google Scholar
• Fogel, B. L., Lee, H., Deignan, J. L., Strom, S. P., Kantarci, S., Wang, X., … Nelson, S. F. (2014). Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurology, 71, 1237–1246. doi:10.1001/jamaneurol.2014.1944
   PubMed Web of Science ®Google Scholar
• González-Pérez, A., & López-Bigas, N. (2011). Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, condel. American Journal of Human Genetics, 88, 440–449. doi:10.1016/j.ajhg.2011.03.004
   PubMed Web of Science ®Google Scholar
• Goodglass, H., Kaplan, E., Weintraub, S., & Barresi, B. (2001). Boston diagnostic aphasia examination. Philadephia: Lippincott Williams & Wilkins.
   Google Scholar
• Kersey, P. J., Allen, J. E., Armean, I., Boddu, S., Bolt, B. J., Carvalho-Silva, D., … Staines, D. M. (2016). Ensembl genomes 2016: more genomes, more complexity. Nucleic Acids Research, 44, D574–D580. doi:10.1093/nar/gkv1209
   PubMed Web of Science ®Google Scholar
• Koboldt, D. C., Chen, K., Wylie, T., Larson, D. E., McLellan, M. D., Mardis, E. R., … Ding, L. (2009). VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (Oxford, England), 25, 2283–2285. doi:10.1093/bioinformatics/btp373
   PubMed Web of Science ®Google Scholar
• Koenig, M., Tranchant, C., & Anheim, M. (2015). Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene–reply. JAMA Neurology, 72, 239–240. doi:10.1001/jamaneurol.2014.3921
   PubMed Web of Science ®Google Scholar
• Kumar, P., Henikoff, S., & Ng, P. C. (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols, 4, 1073–1081. doi:10.1038/nprot.2009.86
   PubMed Web of Science ®Google Scholar
• Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (Oxford, England), 25, 1754–1760. doi:10.1093/bioinformatics/btp324
   PubMed Web of Science ®Google Scholar
• McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., … DePristo, M. A. (2010). The genome analysis toolkit: a Mapreduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20, 1297–1303. doi:10.1101/gr.107524.110
   PubMed Web of Science ®Google Scholar
• Minnerop, M., & Bauer, P. (2015). Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene. JAMA Neurology, 72, 238–239. doi:10.1001/jamaneurol.2014.3918
   PubMed Web of Science ®Google Scholar
• Mioshi, E., Dawson, K., Mitchell, J., Arnold, R., & Hodges, J. R. (2006). The Addenbrooke’s Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening. International Journal of Geriatric Psychiatry, 21, 1078–1085. doi:10.1002/gps.1610
   PubMed Web of Science ®Google Scholar
• Mišković, N. D., Domingo, A., Dobričić, V., Max, C., Braenne, I., Petrović, I., … Westenberger, A. (2016). Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Movement Disorders: Official Journal of the Movement Disorder Society, 31, 1929–1931. doi:10.1002/mds.26816
   PubMed Web of Science ®Google Scholar
• Nieto, A., Correia, R., de Nóbrega, E., Montón, F., Hess, S., & Barroso, J. (2012). Cognition in Friedreich ataxia. Cerebellum (London, England), 11, 834–844. doi:10.1007/s12311-012-0363-9
   PubMed Web of Science ®Google Scholar
• Nieto, A., Galtier, I., Hernández, E., Velasco, P., & Barroso, J. (2016). Addenbrooke’s cognitive examination-revised: effects of education and age. normative data for the spanish speaking population. Archives of Clinical Neuropsychology, 31, 811–818. doi:10.1093/arclin/acw057
   PubMed Web of Science ®Google Scholar
• Piatt, A. L., Fields, J. A., Paolo, A. M., & Tröster, A. I. (1999). Action (verb naming) fluency as an executive function measure: convergent and divergent evidence of validity. Neuropsychologia, 37, 1499–1503.
   PubMed Web of Science ®Google Scholar
• Renaud, M., Anheim, M., Kamsteeg, E.-J., Mallaret, M., Mochel, F., Vermeer, S., … Koenig, M. (2014). Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. JAMA Neurology, 71, 1305–1310. doi:10.1001/jamaneurol.2014.193
   PubMed Web of Science ®Google Scholar
• Schuhfried, G. (1992). Vienna Reaction Unit. Manual. Vienna: Schuhfried Ges.m.b.H.
   Google Scholar
• Schwarz, J. M., Cooper, D. N., Schuelke, M., & Seelow, D. (2014). MutationTaster2: mutation prediction for the deep-sequencing age. Nature Methods, 11, 361–362. doi:10.1038/nmeth.2890
   PubMed Web of Science ®Google Scholar
• Selvadurai, L., Harding, I., Corben, L., & Georgiou-Karistianis, N. (2018). Cerebral abnormalities in Friedreich ataxia: A review. Neurosciences and Biobehavioral Reviews, 84, 394–406. doi:10.1016/j.neubiorev.2017.08.006
   PubMed Web of Science ®Google Scholar
• Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., … Knoers, N. (2010). Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. American Journal of Human Genetics, 87, 813–819. doi:10.1016/j.ajhg.2010.10.015
   PubMed Web of Science ®Google Scholar
• Wechler, D. (2008). Wechsler adult intelligence scale (4th ed.). Texas: NCS Pearson.
   Google Scholar
• Wechler, D. (2012). Escala de inteligencia de Wechsler para adultos (4th ed.). Madrid: NCS Pearson.
   Google Scholar