Charcot Marie Tooth disease type 4J with complex central nervous system features

James P. Orengo, Pravin Khemani, John W. Day, Jun Li, Carly E. Siskind

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.

Original languageEnglish (US)
Pages (from-to)222-225
Number of pages4
JournalAnnals of Clinical and Translational Neurology
Volume5
Issue number2
DOIs
StatePublished - Feb 1 2018

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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