SCA27 is a cause of early-onset ataxia and developmental delay

Eur J Paediatr Neurol. 2015 Mar;19(2):271-3. doi: 10.1016/j.ejpn.2014.11.013. Epub 2014 Dec 5.

Authors

Marc Planes¹, Caroline Rooryck², Marie-Laure Vuillaume², Lucie Besnard³, Julie Bouron³, Didier Lacombe², Benoit Arveiler², Cyril Goizet²

Affiliations

¹ CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France. Electronic address: marc.planes@chu-guadeloupe.fr.
² CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
³ CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

PMID: 25530029
DOI: 10.1016/j.ejpn.2014.11.013

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Developmental Disabilities / genetics*
Female
Fibroblast Growth Factors / genetics
Gene Deletion
Humans
Intellectual Disability / etiology
Intellectual Disability / genetics
Magnetic Resonance Imaging
Microcephaly / etiology
Microcephaly / genetics
Point Mutation / genetics
Spinocerebellar Ataxias / genetics*
Spinocerebellar Degenerations / complications
Spinocerebellar Degenerations / genetics*
Spinocerebellar Degenerations / physiopathology
Young Adult

Substances

fibroblast growth factor 14
Fibroblast Growth Factors

Supplementary concepts

Spinocerebellar ataxia 27