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

Journal Article (Journal Article)

'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity 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.

Full Text

Duke Authors

Cited Authors

  • Hentati, A; Pericak-Vance, MA; Hung, WY; Belal, S; Laing, N; Boustany, RM; Hentati, F; Ben Hamida, M; Siddique, T

Published Date

  • August 1994

Published In

Volume / Issue

  • 3 / 8

Start / End Page

  • 1263 - 1267

PubMed ID

  • 7987300

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/3.8.1263


  • eng

Conference Location

  • England