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

J Hazan; B Fontaine; R P Bruyn; C Lamy; J C van Deutekom; C S Rime; A Dürr; J Melki; O Lyon-Caen; Y Agid

doi:10.1093/hmg/3.9.1569

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

Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569.

Authors

J Hazan¹, B Fontaine, R P Bruyn, C Lamy, J C van Deutekom, C S Rime, A Dürr, J Melki, O Lyon-Caen, Y Agid, et al.

Affiliation

¹ Unité de Génétique Moléculaire Humaine, CNRS URA 1445, Institut Pasteur, Paris, France.

PMID: 7833913
DOI: 10.1093/hmg/3.9.1569

Abstract

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by a spasticity of the lower limbs. A locus causing AD-FSP (FSP1) has been previously mapped to chromosome 14q. We now report linkage of a second AD-FSP locus (FSP2) to chromosome 2p21-p24 in five of seven French families and one large Dutch pedigree. The analysis of recombination events and multipoint linkage place FSP2 within a 4 cM interval flanked by loci D2S400 and D2S367.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 2*
DNA / genetics
Female
France
Genes, Dominant*
Genetic Linkage*
Genetic Markers
Humans
Lod Score
Male
Middle Aged
Netherlands
Pedigree
Recombination, Genetic
Spastic Paraplegia, Hereditary / genetics*

Substances

Genetic Markers
DNA