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RESEARCH: New HSP gene locus discovered

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A locus for complicated hereditary spastic paraplegia

maps to chromosome 1q24-q32.

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.

Department of Neurology, Hillel-Yaffe Medical Center,

Hadera. Israel.

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.

SOURCE: Ann Neurol. 2003 Dec;54(6):796-803.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

4681889 & dopt=Abstract

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