Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
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.
Muglia
M
M
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Criscuolo
C
C
Magariello
A
A
De Michele
G
G
Scarano
V
V
D'Adamo
P
P
Ambrosio
G
G
Gabriele
A L
AL
Patitucci
A
A
Mazzei
R
R
Conforti
F L
FL
Sprovieri
T
T
Morgante
L
L
Epifanio
A
A
La Spina
P
P
Valentino
P
P
Gasparini
P
P
Filla
A
A
Quattrone
A
A
D000328:Adult; D002898:Chromosomes, Human, Pair 8; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers