title: Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy.
abstract: We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked in the other. Slight but definite atrophy of the corpus callosum and axonal neuropathy were demonstrated in 1 sibling who underwent detailed investigation. Review of similar cases reported in the literature indicates that this recessively inherited disorder probably represents a homogeneous group within the heterogeneous cluster of complicated FSP.
authors.affiliation: Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Yamashita
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: I
authors.initials: I
authors.lastname: Yabe
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: S
authors.initials: S
authors.lastname: Chin
authors.forename: T
authors.initials: T
authors.lastname: Fukazawa
authors.forename: H
authors.initials: H
authors.lastname: Okumura
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001284:Atrophy; D001369:Axons / Q000473:pathology*; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree