Autosomal dominant familial spastic paraplegia: report of a large New England family.
A large New England family with autosomal dominant familial spastic paraplegia is described. In a pedigree of 173 individuals, 71 affected individuals are identified. Seventeen cases examined by the authors are described with regard to the natural history of FSP in this family. A staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, FSP is found to have a homogeneous clinical course with nearly complete penetrance. Onset occurs at or before 3 years of age with involvement limited to the lower extremities. After the initial onset, no significant progression was noted. Early aggressive habilitative care may result in more functional ambulation.
Cooley
W C
WC
Clinical Genetics and Child Development Center, Dartmouth Medical School, Hanover, NH.
Rawnsley
E
E
Melkonian
G
G
Moses
C
C
McCann
D
D
Virgin
B
B
Coughlan
J
J
Moeschler
J B
JB
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D005260:Female; D005684:Gait; D005799:Genes, Dominant; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009511:New England; D010375:Pedigree; D012737:Sex Factors; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology / Q000534:rehabilitation