title: Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.
abstract: To date, three loci for autosomal recessive hereditary spastic paraplegia (ARHSP) linked to chromosomes 8p12-q13, 16qter, and 15q13-15 have been characterized. We have clinically characterized 13 Japanese ARHSP families and performed genetic linkage analyses. All 13 families were classified as having the "complicated" form, which manifests with mental impairment and thin corpus callosum. Linkage to the 8p12-q13 and 16qter loci was excluded, although 10 of the 13 families showed marker data consistent with linkage to the 15q13-15 locus. The multipoint LOD score of the 10 families linked to chromosome 15 was above 9.00 in the 3-centimorgan segment flanked by D15S994 and D15S659, with a maximum multipoint LOD score of 9.68 at a position 1.2 centimorgans telomeric from D15S994 to D15S659. We have shown that ARHSP with thin corpus callosum, a subtype of recessive spastic paraplegia, maps to chromosome 15q13-15.
authors.affiliation: Department of Neurology, Brain Research Institute, Niigata University, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shibasaki
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: K
authors.initials: K
authors.lastname: Iwabuchi
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: H
authors.initials: H
authors.lastname: Kondo
authors.forename: K
authors.initials: K
authors.lastname: Uekawa
authors.forename: M
authors.initials: M
authors.lastname: Ueda
authors.forename: T
authors.initials: T
authors.lastname: Kamiya
authors.forename: Y
authors.initials: Y
authors.lastname: Katayama
authors.forename: A
authors.initials: A
authors.lastname: Nakamura
authors.forename: H
authors.initials: H
authors.lastname: Takashima
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: M
authors.initials: M
authors.lastname: Masuda
authors.forename: H
authors.initials: H
authors.lastname: Utsumi
authors.forename: T
authors.initials: T
authors.lastname: Nakamuro
authors.forename: K
authors.initials: K
authors.lastname: Tada
authors.forename: K
authors.initials: K
authors.lastname: Kurohara
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: F
authors.initials: F
authors.lastname: Koike
authors.forename: T
authors.initials: T
authors.lastname: Sakai
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology