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PMID: 7833913 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Human molecular genetics ·Vol. 3 ·No. 9 ·1994-09-00 ·Pages 1569-73

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y

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.

Related Genes

FSP1 FSP2

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

Chemicals

Genetic Markers DNA

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Hazan J

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

Fontaine B

Bruyn R P

Lamy C

van Deutekom J C

Rime C S

Dürr A

Melki J

Lyon-Caen O

Agid Y

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/3.9.1569

Published

1994-09-00

Pages

1569-73

Language

English

Region

England

NLM ID

9208958

Subset

External Links

PubMed source DOI: 10.1093/hmg/3.9.1569 View journal details

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

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