Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.
'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(theta) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P > 0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.
Department of Neurology, Northwestern University Medical School, Chicago, IL 60611.
A
A
Hentati
M A
MA
Pericak-Vance
F
F
Lennon
B
B
Wasserman
F
F
Hentati
T
T
Juneja
M H
MH
Angrist
W Y
WY
Hung
R M
RM
Boustany
S
S
Bohlega
D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D011336:Probability; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers