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© 1994 Oxford University Press

OTHER

Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

A. Hentati1,2, M.A. Perlcak-Vance3, W.-Y. Hung1, S. Belal2, N. Laing4, R-M. Boustany5, F. Hentatl2, M.Ben Hamlda2 and T. Siddlque1,6,*

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

* To whom correspondence should be addressed

Received March 28, 1994; Accepted June 13, 1994

‘Pure’ familial spastic paraplegias (FSP) are neuro-degenerative disorders that are clinically characterized by progressive spastlcity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP Is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, PLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity In RFSP. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.


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