Autosomal recessive spastic paraplegia: evidence for demyelination.
Neurological evaluation of a family living in rural Louisiana showed that six living members have splasticity, hyperactive stretch reflexes, and pathological reflexes. Ten deceased family members had been similarly affected. All affected persons were offspring of consanguineous marriages, and sex distribution was equal, indicating that inheritance was autosomal recessive. Although undetected clinically, conduction abnormalities suggestive of demyelination in the visual pathways were revealed by special tests.
D000328:Adult; D003241:Consanguinity; D003711:Demyelinating Diseases / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D014787:Vision Tests