Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Afif Hentati, Margaret A. Pericak-vance, Felicia Lennon, Brad Wasserman, Faycal Hentati, Tony Juneja, Misha H. Angrist, Wu Yen Hung, Rose Mary Boustany, Saeed Bohlega, Zafar Iqbal, Carl H. Huether, Mongi Ben Hamida, Teepu Siddique*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

79 Scopus citations

Abstract

'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(θ) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P>0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

Original languageEnglish (US)
Pages (from-to)1867-1871
Number of pages5
JournalHuman molecular genetics
Volume3
Issue number10
DOIs
StatePublished - Oct 1994

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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