Hereditary spastic paraplegia in Western Norway

In Western Norway, two types of hereditary spastic paraplegia (HSP) were found: one type segregating as an autosomal dominant, and the other type behaving as an autosomal recessive trait. Within the last category, an infantile type might be defined, with more marked CNS affection than usual (dementia, epilepsy, cerebellar signs). In two of five families with autosomal recessive HSP, retinitis pigmentosa was found in the affected persons. Muscular atrophy was frequently found in both types of HSP, but was more pronounced in the recessive form. Cerebellar signs and cerebral/mental dysfunction also occurred relatively frequently in recessive cases.In three kindreds where HSP segregated as a dominant trait, 38 family members were examined. Of these, 23 were affected, four had unspecific neuropathy (Un), and 11 were unaffected. In five families where HSP behaved as a recessive trait, 61 family members were examined. Eleven were affected, 19 had Un, and 31 were unaffected. In the diagnosis of Un, a score system was used recording all types of neurological sign. The scores were corrected for age and sex differences based on findings in a normal population.Estimated prevalence in the area