Expanding the clinical and genetic heterogeneity of SPAX5: Annals of Clinical and Translational Neurology

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the ATPase family 3-like gene (AFG3L2) have been linked to autosomal-dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia-neuropathy syndrome. Here, we describe the case of a child carrying bi-allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. Studies in skin fibroblasts showed a significant reduction of AFG3L2 expression. The relatively mild clinical presentation and the benign course, in spite of severe neuroimaging features, distinguish this case from data reported in the literature, and therefore expand the spectrum of neurological and neuroradiological features associated with AFG3L2 mutations. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
Original languageEnglish
Pages (from-to)595-601
Number of pages7
JournalAnn. Clin. Transl. Neurol.
Volume7
Issue number4
DOIs
Publication statusPublished - 2020

Keywords

  • allele
  • article
  • basal ganglion
  • case report
  • child
  • clinical article
  • female
  • gene mutation
  • genetic heterogeneity
  • human
  • male
  • neuroimaging
  • protein expression
  • skin fibroblast

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