Document Detail

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
MedLine Citation:
PMID:  23196337     Owner:  NLM     Status:  Publisher    
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.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-30
Journal Detail:
Title:  Journal of neurology     Volume:  -     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131, Naples, NA, Italy,
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