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

A. Hentati, M. A. Perlcak-vance, W. Y. Hung, S. Belal, N. Laing, R. M. Boustany, F. Hentatl, M. Ben Hamlda, T. Siddlque

Research output: Contribution to journalArticle

111 Scopus citations

Abstract

'Pure' familial spastic paraplegias (FSP) are neuro-degenerative 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.

Original languageEnglish (US)
Pages (from-to)1263-1267
Number of pages5
JournalHuman molecular genetics
Volume3
Issue number8
DOIs
StatePublished - Aug 1994

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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