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Start Over Author "Babalini C" Topic hereditary spastic paraplegia
2 results on '"Babalini C"'

1. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Author

Pippucci, T., Panza, E., Pompilii, E., Donadio, V., Borreca, A., Babalini, C., Patrono, C., Zuntini, R., Kawarai, T., Bernardi, G., Liguori, R., Romeo, G., Montagna, P., Orlacchio, A., and Seri, M.

Subjects
PARAPLEGIA, CORPUS callosum, GENETICS, HETEROGENEITY, CHROMOSOMES
Abstract

Background and purpose: Autosomal Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum (AR-HSPTCC) is a clinically and genetically heterogeneous complicated form of spastic paraplegia. Two AR-HSPTCC loci have been assigned to chromosome 15q13-15 ( SPG11) and chromosome 8p12-p11.21 respectively. Mutations in the SPG11 gene, encoding the spatacsin protein, have been found in the majority of SPG11 families. In this study, involvement of the SPG11 or 8p12-p11.21 loci was investigated in five Italian families, of which four consanguineous. Methods: Families were tested for linkage to the SPG11 or 8p12-p11.21 loci and the SPG11 gene was screened in all the affected individuals. Results: Linkage was excluded in the four consanguineous families. In the only SPG11-linked family the same homozygous haplotype 4.2 cM across the SPG11 locus was shared by all the three affected siblings. A novel c.2608A>G mutation predicted to affect the splicing was found in exon 14 of the SPG11 gene. Discussion: This collection of families contributes to highlight the intra and inter locus heterogeneity in AR-HSPTCC, already remarked in previous reports. In particular, it confirms heterogeneity amongst Italian families and reports a new mutation predicted to affect splicing in the spatacsin gene. [ABSTRACT FROM AUTHOR]

Published
2009
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2. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

Author

Marco Seri, Antonio Orlacchio, Pasquale Montagna, T. Kawarai, Vincenzo Donadio, Eva Pompilii, Roberta Zuntini, Giorgio Bernardi, C. Patrono, Rocco Liguori, Emanuele Panza, Tommaso Pippucci, Antonella Borreca, Carla Babalini, Giovanni Romeo, Pippucci T., Panza E., Pompilii E., Donadio V., Borreca A., Babalini C., Patrono C., Zuntini R., Kawarai T., Bernardi G., Liguori R., Romeo G., Montagna P., Orlacchio A., and Seri M.

Subjects
Adult, Male, Splice site mutations, Thinning of the corpus callosum, Adolescent, Hereditary spastic paraplegia, Locus (genetics), Nervous System Malformations, Exon, Young Adult, Genetic linkage, Locus heterogeneity, Linkage analysis, SPG11, Agenesis of Corpus Callosum, Female, Genetic Predisposition to Disease, Humans, Mutation, Pedigree, Proteins, Spastic Paraplegia, Hereditary, Neurology (clinical), Neurology, Spastic Paraplegia, Medicine, Gene, Genetics, business.industry, Genetic heterogeneity, Haplotype, hereditary spastic paraplegia, linkage analysis, splice site mutations, thinning of the corpus callosum, medicine.disease, Hereditary, Settore MED/26 - Neurologia, business
Abstract

Background and purpose: Autosomal Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum (AR-HSPTCC) is a clinically and genetically heterogeneous complicated form of spastic paraplegia. Two AR-HSPTCC loci have been assigned to chromosome 15q13-15 (SPG11) and chromosome 8p12-p11.21 respectively. Mutations in the SPG11 gene, encoding the spatacsin protein, have been found in the majority of SPG11 families. In this study, involvement of the SPG11 or 8p12-p11.21 loci was investigated in five Italian families, of which four consanguineous. Methods: Families were tested for linkage to the SPG11 or 8p12-p11.21 loci and the SPG11 gene was screened in all the affected individuals. Results: Linkage was excluded in the four consanguineous families. In the only SPG11-linked family the same homozygous haplotype 4.2 cM across the SPG11 locus was shared by all the three affected siblings. A novel c.2608A>G mutation predicted to affect the splicing was found in exon 14 of the SPG11 gene. Discussion: This collection of families contributes to highlight the intra and inter locus heterogeneity in AR-HSPTCC, already remarked in previous reports. In particular, it confirms heterogeneity amongst Italian families and reports a new mutation predicted to affect splicing in the spatacsin gene.

Published
2008

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