title: Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
abstract: 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.
authors.affiliation: INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. brice@ccr.jussieu.fr
authors.forename: Naima
authors.initials: N
authors.lastname: Bouslam
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Hamid
authors.initials: H
authors.lastname: Azzedine
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bouhouche
authors.forename: Michito
authors.initials: M
authors.lastname: Namekawa
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
authors.forename: Céline
authors.initials: C
authors.lastname: Charon
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Merle
authors.initials: M
authors.lastname: Ruberg
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
mesh_terms: 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*