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01-02-2004 | Original Article

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

Authors: M. Muglia, C. Criscuolo, A. Magariello, G. De Michele, V. Scarano, P. D’Adamo, G. Ambrosio, A. L. Gabriele, A. Patitucci, R. Mazzei, F. L. Conforti, T. Sprovieri, L. Morgante, A. Epifanio, P. La Spina, P. Valentino, P. Gasparini, A. Filla, A. Quattrone

Published in: Neurogenetics | Issue 1/2004

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.

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Title: Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
Authors: M. Muglia
C. Criscuolo
A. Magariello
G. De Michele
V. Scarano
P. D’Adamo
G. Ambrosio
A. L. Gabriele
A. Patitucci
R. Mazzei
F. L. Conforti
T. Sprovieri
L. Morgante
A. Epifanio
P. La Spina
P. Valentino
P. Gasparini
A. Filla
A. Quattrone
Publication date: 01-02-2004
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2004
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-003-0167-7

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Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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