title: Hereditary spastic paraplegia associated with thin corpus callosum.
abstract: Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15 q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.
authors.affiliation: Division of Neurology, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
authors.forename: H A
authors.initials: HA
authors.lastname: Teive
authors.forename: F M
authors.initials: FM
authors.lastname: Iwamoto
authors.forename: M V
authors.initials: MV
authors.lastname: Della Coletta
authors.forename: C H
authors.initials: CH
authors.lastname: Camargo
authors.forename: R D
authors.initials: RD
authors.lastname: Bezerra
authors.forename: G
authors.initials: G
authors.lastname: Minguetti
authors.forename: L C
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D001938:Brazil; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D044465:White People