http://www.cnr.it/ontology/cnr/individuo/prodotto/ID50175

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (Articolo in rivista)

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Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (Articolo in rivista) (literal)

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Alternative label

Muglia M; Criscuolo C; Magariello A; De Michele G; Scarano V; D'Adamo P; Ambrosio G; Gabriele AL; Patitucci A; Mazzei R; Conforti FL; Sprovieri T; Morgante L; Epifanio A; La Spina P; Valentino P; Gasparini P; Filla A; Quattrone A. (2004)
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
in Neurogenetics (Oxf., Print); Springer-Verlag, Berlin (Germania)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Muglia M; Criscuolo C; Magariello A; De Michele G; Scarano V; D'Adamo P; Ambrosio G; Gabriele AL; Patitucci A; Mazzei R; Conforti FL; Sprovieri T; Morgante L; Epifanio A; La Spina P; Valentino P; Gasparini P; Filla A; Quattrone A. (literal)

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M. Muglia · A. Magariello · A. L. Gabriele · A. Patitucci · R. Mazzei · F. L. Conforti · T. Sprovieri · A. Quattrone Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy- C. Criscuolo · G. De Michele · V. Scarano · G. Ambrosio · A. Filla Department of Neurological Sciences, Federico II University, Naples, Italy- P. D'Adamo · P. Gasparini Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy- L. Morgante · A. Epifanio · P. La Spina Department of Neurology, University of Messina, Messina, Italy- P. Valentino · A. Quattrone Institute of Neurology, University \"Magna Graecia\", Catanzaro, Italy- (literal)

Titolo

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (literal)

Abstract

Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reported. We show evidence of linkage to the SPG5 locus on chromosome 8p and our data reduce the candidate interval for SPG5 to the11-cM interval spanned by D8S285 and D8S544. We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5. (literal)

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