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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia (Articolo in rivista)

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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia (Articolo in rivista) (literal)

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Muglia M,1; Magariello A,1; Nicoletti G,1; Patitucci A,1; Gabriele AL,1; Conforti FL,1; Mazzei R,1; Caracciolo M,1; Ardito B,2; Lastilla M,2; Tedeschi G,3; Quattrone A.1-4 (2002)
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
in Annals of neurology
(literal)

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Muglia M,1; Magariello A,1; Nicoletti G,1; Patitucci A,1; Gabriele AL,1; Conforti FL,1; Mazzei R,1; Caracciolo M,1; Ardito B,2; Lastilla M,2; Tedeschi G,3; Quattrone A.1-4 (literal)

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We report a large Italian family with autosomal dominant uncomplicated spastic paraplegia. Linkage analysis had shown a significant linkage to chromosome 14. The sequence analysis of the SPG3A gene revealed a mutation Arg217Gln in exon 7 of the gene; the mutation alters the RD motif of atlastin. (literal)

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1Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone- Cosenza; 2Department of Neurology, Hospital Miulli, Acquaviva delle Fonti (BA); 3Department of Neurology, Second University of Naples; 4Institute of Neurology, School of Medicine, Catanzaro, Italy. (literal)

Titolo

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia (literal)

Abstract

In the current study, we report a novel mutation in a large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia. We included 35 individuals from four generations. Significant linkage to the SPG3 locus on chromosome 14 was detected with a maximum LOD score of 4.58 at D14S255. Direct sequencing of the SPG3A gene revealed a G-->A mutation at position 818 in exon 7 of the gene. This mutation created an amino-acid change from Arg to Gln at codon 217. This is the first evidence of a mutation in the SPG3A gene that alters the RD motif of atlastin. These data also confirm that mutations in the SPG3A gene are causative of AD-HSP (literal)

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