Hereditary spastic diplegia with mental retardation in two young siblings.
Two young siblings with hereditary spastic diplegia and mental retardation (Böök's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive trait--with affected sibs of opposite sex, born to consanguineous healthy parents.
Gustavson
K H
KH
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Modrzewska
K
K
Erikson
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D007839:Functional Laterality / Q000235:genetics / Q000502:physiology; D005684:Gait / Q000502:physiology; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology