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A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32
Author(s) -
Blumen Sergiu C.,
Bevan Simon,
AbuMouch Saif,
Negus David,
Kahana Michael,
Inzelberg Rifka,
Mazarib Aziz,
Mahamid Ahmad,
Carasso Ralph L.,
Slor Hanoch,
Withers David,
Nisipeanu Puiu,
Navon Ruth,
Reid Evan
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10768
Subject(s) - locus (genetics) , hereditary spastic paraplegia , spastic , genetics , chromosome , medicine , biology , physical medicine and rehabilitation , gene , phenotype , cerebral palsy
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. Ann Neurol 2003;54:796–803