Abstract
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.
Key words
Hereditary spastic paraplegia - Autosomal recessive - Pure form - Complicated form
- Genetic heterogeneity
