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
Related Documents :
11713717 - Mapping of charcot-marie-tooth disease type 1c to chromosome 16p identifies a novel loc...
19735987 - Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel spg3a de no...
24481607 - Severe combined immunodeficiency in serbia and montenegro between years 1986 and 2010: ...
23034027 - Mek inhibition in braf-mutated melanoma.
17376727 - Nod-like receptors and human diseases.
15367117 - Does heterozygosity estimate inbreeding in real populations?
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,
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Clinical and imaging correlates of EEG patterns in hospitalized patients with encephalopathy.
Next Document:  Patients with rest-tremor and scans with ipsilateral dopaminergic deficit.