Document Detail

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
MedLine Citation:
PMID:  16684598     Owner:  NLM     Status:  MEDLINE    
Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and 16 were apparently sporadic, were screened for mutations in the SPG4 gene by denaturing high performance liquid chromatography. We identified a previously reported mutation in a sporadic patient with pure hereditary spastic paraplegia. We also identified eight unrelated patients with pure autosomal dominant hereditary spastic paraplegia carrying five novel mutations in the SPG4 gene (one missense mutation, c.1304 C>T; one nonsense mutation, c.807C>A; two frameshift mutations, c.1281dupT, c.1514_1515insATA; and one splicing mutation, c.1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population.
Angela Magariello; Maria Muglia; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Anna Lia Gabriele; Teresa Sprovieri; Carmine Ungaro; Antonio Gambardella; Michelangelo Mancuso; Gabriele Siciliano; Damiano Branca; Umberto Aguglia; Maria Vittoria de Angelis; Katia Longo; Aldo Quattrone
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Publication Detail:
Type:  Journal Article     Date:  2006-05-08
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  16     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-06-19     Completed Date:  2006-11-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  387-90     Citation Subset:  IM    
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
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MeSH Terms
Adenosine Triphosphatases / genetics*
Chromatography, High Pressure Liquid
Frameshift Mutation*
Middle Aged
Mutation, Missense*
Paraplegia / genetics*
Reg. No./Substance:
EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/SPAST protein, human

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