Abstract
Spinocerebellar ataxia 7 (SCA7) is a rare autosomal dominant neurodegenerative disorder with variable expression first described in 1937 [2]. The main signs are cerebellar ataxia, dysarthria, dysphagia and a variable retinal involvement first of the macula, later of the retinal periphery.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel J-L, Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65–70.
Froment J, Bonnet P, Colrat A. Hérédo-dégénérescence rétinienne et spinocérébelleuse:variantes ophtalmoscopiques et neurologiques présentées par trois générations successives. J Med Lyon. 1937;4:153–63.
Hugosson T, Gränse L, Ponjavic V, Andréasson S. Macular dysfunction and morphologyin spinocerebellar ataxia type 7 (SCA 7). Ophthalmic Genet. 2009;30:1–6.
La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 2001;31:913–27. Erratum in: Neuron 2001;32:957–8.
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A. Autosomal dominant cerebellar ataxias. Rev Neurol (Paris). 2011;167:385–400.
Michalik A, Martin J-J, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet. 2004;12:2–15.
Stevanin G, Sittler A, Brice A. SCA7, Spinocerebellar ataxia with macular dystrophy. Encyclop Mov Disord. 2010;3:75–8. Elsevier Paris.
Yanicostas C, Barbieri E, Hibi M, Brice A, Stevanin G, Soussi-Yanicostas N. Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One. 2012;7(11):e50705. doi:10.1371/journal.pone.0050705. Epub 2012 Nov 30.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Puech, B., Stevanin, G., Zanlonghi, X. (2014). Spinocerebellar Ataxia 7. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_28
Download citation
DOI: https://doi.org/10.1007/978-3-540-69466-3_28
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-69464-9
Online ISBN: 978-3-540-69466-3
eBook Packages: MedicineMedicine (R0)