We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed. (C) 2003 Wiley-Liss, Inc.

Lo Nigro, C., Cusano, R., Gigli, G., Forabosco, P., Valente, M., Ravazzolo, R., et al. (2003). Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A.

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy

DIOMEDI, MARINA;
2003-03-01

Abstract

We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed. (C) 2003 Wiley-Liss, Inc.
mar-2003
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/26 - Neurologia
English
Con Impact Factor ISI
SPG9; autosomal dominant spastic paraplegia; epilepsy; linkage analysis; genetic heterogeneity
Lo Nigro, C., Cusano, R., Gigli, G., Forabosco, P., Valente, M., Ravazzolo, R., et al. (2003). Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A.
Lo Nigro, C; Cusano, R; Gigli, G; Forabosco, P; Valente, M; Ravazzolo, R; Diomedi, M; Seri, M
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/50514
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