Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity |
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| Authors: | Hentati, A. Perlcak-Vance, M.A. Hung, W.-Y. Belal, S. Laing, N. Boustany, R-M. Hentatl, F. Hamlda, M.Ben Siddlque, T. |
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| Affiliation: | 1Department of Neurology, Northwestern University Medical School, 300 E. Superior Chicago, IL 60611, USA 2lnstitut National de Neurologie Tunis, Tunisia 3Division of Neurology, Duke University Medical Center Durham, NC 27710, USA 4Queen Elizabeth II Medical Centre Nedlands, Western Australia 5Department of Pediatrics, Duke University Medical Center Durham, NC 27710 6Department of Cell, Molecular and Structural Biology and Northwestern University Institute of Neuroscience, Northwestern University Medical School Chicago, IL 60611, USA |
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| Abstract: | Pure familial spastic paraplegias (FSP) are neuro-degenerativedisorders that are clinically characterized by progressive spastlcityof the lower limbs and are inherited as autosomal dominant (DFSP)or autosomal recessive (RFSP) traits. The primary defect inFSP Is unknown. Genetic linkage analysis was applied to fiveRFSP families from Tunisia. In four of these five families tightlinkage of the RFSP locus was established to the chromosome8 markers, D8S260, D8S166, D8S285, PLAT, and D8S279. The RFSPlocus in the fifth family was not linked to these markers whichprovided evidence of genetic locus heterogeneity In RFSP. Identificationof the RFSP gene on chromosome 8 will help in understandingthe genetic factors in motor neuron degeneration. |
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