A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

J A Coebergh, D E Fransen van de Putte, I N Snoeck, C Ruivenkamp, A van Haeringen, L M Smit

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

We present a young boy whose mild ataxia and abnormal eye movements repeatedly deteriorated with fever, making him unable to sit or walk during fever episodes. SNP-array analysis identified a 202 kb deletion in chromosome 13q33.1 containing the fibroblast growth factor (FGF)14 gene, which is associated with spinocerebellar ataxia (SCA) 27. This 13q deletion was also present in the proband's mother and grandmother. The mother was unable to perform tandem gait walking and had abnormal eye movements but had never sought medical attention. The grandmother predominantly had a postural tremor. FGF14 regulates brain sodium channels, especially in the cerebellum. Sodium channels can be fever sensitive. This family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis.

Original languageEnglish
Pages (from-to)413-5
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Volume18
Issue number3
DOIs
Publication statusPublished - 2014
Externally publishedYes

Keywords

  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13
  • Fibroblast Growth Factors
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Spinocerebellar Degenerations
  • Case Reports
  • Journal Article

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