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...

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Veröffentlicht in:Annals of neurology 2003-12, Vol.54 (6), p.796-803
Hauptverfasser: Blumen, Sergiu C., Bevan, Simon, Abu-Mouch, Saif, Negus, David, Kahana, Michael, Inzelberg, Rifka, Mazarib, Aziz, Mahamid, Ahmad, Carasso, Ralph L., Slor, Hanoch, Withers, David, Nisipeanu, Puiu, Navon, Ruth, Reid, Evan
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Sprache:eng
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Zusammenfassung: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
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10768