Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene

Francesco Saccà, Angela Marsili, Giorgia Puorro, Antonella Antenora, Chiara Pane, Alessandra Tessa, Pasquale Scoppettuolo, Claudia Nesti, Vincenzo Brescia Morra, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla

Research output: Contribution to journalArticlepeer-review


Friedreich ataxia (FRDA) is caused by a GAA expansion in the first intron of the FXN gene, which encodes frataxin. Four percent of patients harbor a point mutation on one allele and a GAA expansion on the other. We studied an Italian patient presenting with symptoms suggestive of FRDA, and carrying a single expanded 850 GAA allele. As a second diagnostic step, frataxin was measured in peripheral blood mononuclear cells, and proved to be in the pathological range (2.95 pg/μg total protein, 12.7 % of control levels). Subsequent sequencing revealed a novel deletion in exon 5a (c.572delC) which predicted a frameshift at codon 191 and a premature truncation of the protein at codon 194 (p.T191IfsX194). FXN/mRNA expression was reduced to 69.2 % of control levels. Clinical phenotype was atypical with absent dysarthria, and rapid disease progression. l-Buthionine-sulphoximine treatment of the proband's lymphoblasts showed a severe phenotype as compared to classic FRDA.

Original languageEnglish
Pages (from-to)1116-1121
Number of pages6
JournalJournal of Neurology
Issue number4
Publication statusPublished - Apr 2013


  • BSO
  • Deletion
  • Friedreich ataxia
  • l-Buthionine-sulphoximine
  • Lymphoblastoid
  • qPCR

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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