X-linked spastic paraplegia.
This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected members of the family we studied. In addition to these symptoms, the older patients had cerebellar findings, severe disability and contractures. This is the 13th family manifesting x-linked spastic paraplegia reported in the literature.
Ulkü
A
A
Aegean University, Pediatric Neurology Unit, Izmir, Turkey.
Karasoy
H
H
Karatepe
A
A
Gökçay
F
F
D000293:Adolescent; D000328:Adult; D002648:Child; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome