title: A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
abstract: We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.
authors.affiliation: Department of Neurology, Hillel-Yaffe Medical Center, Hadera. Israel.
authors.forename: Sergiu C
authors.initials: SC
authors.lastname: Blumen
authors.forename: Simon
authors.initials: S
authors.lastname: Bevan
authors.forename: Saif
authors.initials: S
authors.lastname: Abu-Mouch
authors.forename: David
authors.initials: D
authors.lastname: Negus
authors.forename: Michael
authors.initials: M
authors.lastname: Kahana
authors.forename: Rifka
authors.initials: R
authors.lastname: Inzelberg
authors.forename: Aziz
authors.initials: A
authors.lastname: Mazarib
authors.forename: Ahmad
authors.initials: A
authors.lastname: Mahamid
authors.forename: Ralph L
authors.initials: RL
authors.lastname: Carasso
authors.forename: Hanoch
authors.initials: H
authors.lastname: Slor
authors.forename: David
authors.initials: D
authors.lastname: Withers
authors.forename: Puiu
authors.initials: P
authors.lastname: Nisipeanu
authors.forename: Ruth
authors.initials: R
authors.lastname: Navon
authors.forename: Evan
authors.initials: E
authors.lastname: Reid
mesh_terms: D000328:Adult; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012880:Skin Pigmentation / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D005819:Genetic Markers