Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome
References
- 1Bras J, Alonso I, Barbot C, et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015; 96: 474–9. DOI: 10.1016/j.ajhg.2015.01.005
- 2Moreira MC, Barbot C, Tachi N, et al. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet. 2001; 68: 501–508. DOI: 10.1086/318191
- 3Anheim M, Fleury M, Monga B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010; 11: 1–12. DOI: 10.1007/s10048-009-0196-y
- 4Pearson TS. More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes. Tremor Other Hyperkinet Mov. 2016; 6: 368. DOI: 10.5334/tohm.319
- 5Castellotti B, Mariotti C, Rimoldi M, et al. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. 2011; 12: 193–201. DOI: 10.1007/s10048-011-0281-x
- 6Barbot C, Coutinho P, Chorao R, et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol. 2001; 58: 201–205. DOI: 10.1001/archneur.58.2.201
- 7Renaud M, Moreira MC, Ben Monga B, et al. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA Neurol. 2018; 75: 495–502. DOI: 10.1001/jamaneurol.2017.4373
- 8Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet. 2001; 29: 189–193. DOI: 10.1038/ng1001-189
- 9Le Ber I, Moreira MC, Rivaud-Pechoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003; 126: 2761–2772. DOI: 10.1093/brain/awg283
- 10Yokoseki A, Ishihara T, Koyama A, et al. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain. 2011; 134: 1387–1399. DOI: 10.1093/brain/awr069
DOI: https://doi.org/10.5334/tohm.557 | Journal eISSN: 2160-8288
Language: English
Submitted on: Aug 3, 2020
Accepted on: Sep 8, 2020
Published on: Oct 7, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
© 2020 José Luiz Pedroso, Thiago Cardoso Vale, Sophia Caldas Gonzaga da Costa, Mariana Santos, Isabel Alonso, Orlando Graziani Povoas Barsottini, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.