title: [Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].
abstract: A 16-year-old male patient was admitted to our hospital with mental retardation and a gradually increasing gait disturbance. He fell easily at age 6, and lost the ability to jump at age 12. At age 13, he lost the ability to run, and developed pes cavus and hammer toes. Spastic paraplegia with mental retardation, congenital cataracts, hyper reflexia, dysarthria, callosal hypogenesis and peripheral neuropathy were evident at age 16. Laboratory examinations did not reveal any underlying disorders. He was diagnosed as having complex spastic paraplegia with cataracts, mental retardation and peripheral neuropathy that might comprise a genetically distinct entity that is unique to Japan, because all prior reports of this combination have been generated only from Japan.
authors.affiliation: Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo. aykhat@med.nagoya-cu.ac.jp
authors.forename: Ayako
authors.initials: A
authors.lastname: Hattori
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sakuma
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications*