Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings.
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.
Okuda
B
B
Division of Neurology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya, Japan. c-okuda@eph.pref.ehime.jp
Iwamoto
Y
Y
Tachibana
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome