Neuropediatrics 1998; 29(4): 189-194
DOI: 10.1055/s-2007-973559
Original articles

© Hippokrates Verlag GmbH Stuttgart

Clinical Observations in Autosomal Recessive Spastic Paraplegia in Childhood and Further Evidence for Genetic Heterogeneity

H. Topaloǧlu1 , P. Pinarli2 , H. Erdem3 , K. Gücüyener2 , A. Karaduman4 , M. Topçu1 , A. N. Akarsu5 , M. Özgüç3 , 5
  • 1Departments of Child Neurology, Hacettepe University Medical School
  • 2Department of Child Neurology, Gazi University Medical School, Neuromuscular Unit
  • 3Medical Biology, Hacettepe University Medical School
  • 4School of Physiotherapy and Rehabilitation
  • 5DNA/Cell Bank and Gene Reseach Laboratory (TUBITAK), Hacettepe University, Ankara, Turkey
Further Information

Publication History

Publication Date:
12 March 2007 (online)


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.