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

Research output: Contribution to journalArticle

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
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers'. Together they form a unique fingerprint.

  • Cite this

    Hentati, A., Pericak-vance, M. A., Lennon, F., Wasserman, B., Hentati, F., Juneja, T., Angrist, M. H., Hung, W. Y., Boustany, R. M., Bohlega, S., Iqbal, Z., Huether, C. H., Hamida, M. B., & Siddique, T. (1994). Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Human molecular genetics, 3(10), 1867-1871. https://doi.org/10.1093/hmg/3.10.1867