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  • Title: A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
    Author: Blumen SC, Bevan S, Abu-Mouch S, Negus D, Kahana M, Inzelberg R, Mazarib A, Mahamid A, Carasso RL, Slor H, Withers D, Nisipeanu P, Navon R, Reid E.
    Journal: Ann Neurol; 2003 Dec; 54(6):796-803. PubMed ID: 14681889.
    Abstract:
    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.
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