Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourteen families were classified as the "complicated" types which manifested with mental retardation and cerebellar abnormalities. The evolution and severity was variable, but was generally consistent within families. Carriers (parents) did not manifest any signs. A total of 5 multiplex families with "complicated" type were used to test for a genetic heterogeneity to the region on chromosome 8p12-q13 where the "pure" AR-HSP has been mapped previously. No evidence in favor of linkage was detected in 3 of our families, thus we further supported genetic heterogeneity for AR-HSP.
Topaloğlu
H
H
Department of Child Neurology, Hacettepe University Medical School, Ankara, Turkey.
Pinarli
G
G
Erdem
H
H
Gücüyener
K
K
Karaduman
A
A
Topçu
M
M
Akarsu
A N
AN
Ozgüç
M
M
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002526:Cerebellar Diseases / Q000150:complications / Q000151:congenital / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012720:Severity of Illness Index; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000150:complications / Q000235:genetics* / Q000503:physiopathology