Author(s): Coebergh JA, Fransen van de Putte DE, Snoeck IN, Ruivenkamp C, van Haeringen A,
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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. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
This article was published in Eur J Paediatr Neurol
and referenced in Journal of Genetic Syndromes & Gene Therapy