Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias-Reference-Cited by-同舟云学术

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Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Published:2018-05-30 Issue:1 Volume:6 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Fournier Clémence, ,Anquetil Vincent,Camuzat Agnès,Stirati-Buron Sandrine,Sazdovitch Véronique,Molina-Porcel Laura,Turbant Sabrina,Rinaldi Daisy,Sánchez-Valle Raquel,Barbier Mathieu,Latouche Morwena,Stevanin Giovanni,Seilhean Danielle,Brice Alexis,Duyckaerts Charles,Le Ber Isabelle

Funder

AP-HP

FP7 Ideas: European Research Council

Agence Nationale de la Recherche

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-018-0547-8.pdf

Reference15 articles.

1. Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J et al (1995) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118(Pt 6):1573–1581

2. Koyano S, Yagishita S, Kuroiwa Y, Tanaka F, Uchihara T (2014) Neuropathological staging of spinocerebellar ataxia type 2 by semiquantitative 1C2-positive neuron typing. Nuclear translocation of cytoplasmic 1C2 underlies disease progression of spinocerebellar ataxia type 2. Brain Pathol 24:599–606. https://doi.org/10.1111/bpa.12146

3. Charles P, Camuzat A, Benammar N, Sellal F, Destée A, Bonnet A-M et al (2007) Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology 69:1970–1975

4. Elden AC, Kim H-J, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X et al (2010) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466:1069–1075. https://doi.org/10.1038/nature09320

5. Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM (2014) Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. JAMA Neurol 71(12):1529–1534. https://doi.org/10.1001/jamaneurol.2014.2082

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