A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.
Blumen
Sergiu C
SC
Department of Neurology, Hillel-Yaffe Medical Center, Hadera. Israel.
Bevan
Simon
S
Abu-Mouch
Saif
S
Negus
David
D
Kahana
Michael
M
Inzelberg
Rifka
R
Mazarib
Aziz
A
Mahamid
Ahmad
A
Carasso
Ralph L
RL
Slor
Hanoch
H
Withers
David
D
Nisipeanu
Puiu
P
Navon
Ruth
R
Reid
Evan
E
D000328:Adult; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012880:Skin Pigmentation / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology
D005819:Genetic Markers