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Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings
Author(s) -
Okuda B.,
Iwamoto Y.,
Tachibana H.
Publication year - 2002
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2002.01210.x
Subject(s) - hereditary spastic paraplegia , corpus callosum , paraplegia , spastic , medicine , ataxia , pediatrics , pathology , physical medicine and rehabilitation , spinal cord , cerebral palsy , psychiatry , genetics , biology , gene , phenotype
Okuda B, Iwamoto Y, Tachibana H. Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings. Acta Neurol Scand 2002: 106: –. © Blackwell Munksgaard 2002. We report two siblings with autosomal recessive hereditary spastic paraplegia and thin corpus callosum. These patients had a similar history of progressive spastic gait, followed by mental impairment in the second decade. In addition to rigospasticity, ataxia, and foot deformity, both patients had congenital cataract on ophthalmologic examination. The association of cataract and thin corpus callosum suggests a distinct genetic disorder involving these structures in complicated spastic paraplegia.