Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the spastic paraplegia 28 (SPG28) locus to chromosome 14q21.3-q22.3 in a Moroccan family with autosomal recessive hereditary spastic paraplegia. Affected patients experienced development of progressive spastic gait during childhood and required help walking in their early 40s. Nine additional hereditary spastic paraplegia families were not linked to this locus, demonstrating further genetic heterogeneity. No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders.
Bouslam
Naima
N
INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. brice@ccr.jussieu.fr
Benomar
Ali
A
Azzedine
Hamid
H
Bouhouche
Ahmed
A
Namekawa
Michito
M
Klebe
Stephan
S
Charon
Céline
C
Durr
Alexandra
A
Ruberg
Merle
M
Brice
Alexis
A
Yahyaoui
Mohamed
M
Stevanin
Giovanni
G
D000328:Adult; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009018:Morocco; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*