Neuropediatrics, Table of Contents Neuropediatrics 2017; 48(02): 131DOI: 10.1055/s-0037-1598110 Videos in Neuropediatrics Georg Thieme Verlag KG Stuttgart · New YorkSpinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion Authors Author Affiliations Alfonso Amado 1 Child Neurology Unit, SERGAS, Alvaro Cunqueiro Hospital (Vigo), Vigo, Pontevedra, Spain Manuel Oscar Blanco 1 Child Neurology Unit, SERGAS, Alvaro Cunqueiro Hospital (Vigo), Vigo, Pontevedra, Spain Alfredo Repáraz-Andrade 2 Department of Clinical Analysis, Cytogenetics Unit, SERGAS, Alvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain Recommend Article Abstract Buy Article(opens in new window) Full Text References References 1 Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord 2006; 21 (3) 396-401 2 van Swieten JC, Brusse E, de Graaf BM , et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 2003; 72 (1) 191-199 Erratum in: Am J Hum Genet 2003 Apr;72(4):1078 3 Coebergh JA, Fransen van de Putte DE, Snoeck IN, Ruivenkamp C, van Haeringen A, Smit LM. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. Eur J Paediatr Neurol 2014; 18 (3) 413-415 4 Yan H, Pablo JL, Pitt GS. FGF14 regulates presynaptic Ca2+ channels and synaptic transmission. Cell Reports 2013; 4 (1) 66-75 5 Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 2005; 13 (1) 118-120
