| Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene. | |
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MedLine Citation:
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PMID: 23196337 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-11-30 |
Journal Detail:
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Title: Journal of neurology Volume: - ISSN: 1432-1459 ISO Abbreviation: J. Neurol. Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-11-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131, Naples, NA, Italy, francesco.sacca@unina.it. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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