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Erschienen in: Journal of Neurology 5/2015

01.05.2015 | Letter to the Editors

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

verfasst von: Chloé Laurencin, Mathieu Anheim, Lise Larrieu, Caroline Tilikete, Michel Koenig, Stéphane Thobois

Erschienen in: Journal of Neurology | Ausgabe 5/2015

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Excerpt

Dear Sirs, …
Literatur
1.
Zurück zum Zitat Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Koenig M (2001) The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29(2):189–193CrossRefPubMed Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Koenig M (2001) The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29(2):189–193CrossRefPubMed
2.
Zurück zum Zitat Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Dürr A (2003) Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 126(Pt 12):2761–2772CrossRefPubMed Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Dürr A (2003) Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 126(Pt 12):2761–2772CrossRefPubMed
3.
Zurück zum Zitat Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Onodera O (2011) Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain 134(Pt 5):1387–1399CrossRefPubMed Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Onodera O (2011) Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain 134(Pt 5):1387–1399CrossRefPubMed
4.
Zurück zum Zitat Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D et al (2013) Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum 12(4):557–567CrossRefPubMed Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D et al (2013) Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum 12(4):557–567CrossRefPubMed
5.
Zurück zum Zitat Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Hentati F (2004) Aprataxin gene mutations in Tunisian families. Neurology 63(5):928–929CrossRefPubMed Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Hentati F (2004) Aprataxin gene mutations in Tunisian families. Neurology 63(5):928–929CrossRefPubMed
6.
Zurück zum Zitat Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366(7):636–646CrossRefPubMed Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366(7):636–646CrossRefPubMed
7.
Zurück zum Zitat Criscuolo C, Mancini P, Sacca F et al (2004) Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype. Neurology 63:2173–2175CrossRefPubMed Criscuolo C, Mancini P, Sacca F et al (2004) Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype. Neurology 63:2173–2175CrossRefPubMed
8.
Zurück zum Zitat Schöls L, Arning L, Schüle R, Epplen JT, Timmann D (2008) Pseudodominant inheritance of ataxia with ocular apraxia type 2 (AOA2). J Neurol 255(4):495–501CrossRefPubMed Schöls L, Arning L, Schüle R, Epplen JT, Timmann D (2008) Pseudodominant inheritance of ataxia with ocular apraxia type 2 (AOA2). J Neurol 255(4):495–501CrossRefPubMed
9.
Zurück zum Zitat do Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M (2001) Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia (AOA1) to 9p13 and evidence for genetic heterogeneity. Am J Hum Genet 68:501–508PubMedCentralCrossRefPubMed do Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M (2001) Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia (AOA1) to 9p13 and evidence for genetic heterogeneity. Am J Hum Genet 68:501–508PubMedCentralCrossRefPubMed
10.
Zurück zum Zitat Renaud M, Anheim M, Kamsteeg EJ, 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(10):1305–1310CrossRefPubMed Renaud M, Anheim M, Kamsteeg EJ, 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(10):1305–1310CrossRefPubMed
Metadaten
Titel
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset
verfasst von
Chloé Laurencin
Mathieu Anheim
Lise Larrieu
Caroline Tilikete
Michel Koenig
Stéphane Thobois
Publikationsdatum
01.05.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 5/2015
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-015-7717-4

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