Spastic paraplegia, x-linked (sppx)

General: X-linked; early onset; slow progression and long sur 939e44j vival with eventual involvement of the cerebellum, cerebral cortex, and optic nerves.

Ocular: Nystagmus; optic atrophy; poor vision; cataracts; convergent strabismus; red-green color vision defects.

Clinical: Spastic paraplegia; athetosis; mental retardation; dysarthria, ankle clonus; clubfeet; slow speech; spasticity of the legs; hyperactive reflexes; bilateral Babinski signs; toe walking; bilateral pes cavus; knee clonus; upward tar reflexes; urinary incontinence; recurrent urinary infection; hematuria; progressive spastic gait disorder; hyperreflexia.

Gutmann DH, et al. Complicated hereditary spastic paraparesis with cerebral white matter lesions. Am J Med Genet 1990; 36:251-257.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Raggio JF, et al. X-linked hereditary spastic paraplegia. J La State Med Soc 1973; 125: 4-6.

Ulku A, et al. X-linked spastic paraplegia. Acta Neurol Scand 1991; 83:403-406.