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PMID: 8252041 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

Nature genetics ·Vol. 5 ·No. 2 ·1993-10-00 ·Pages 163-7

Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J

Abstract

Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.

Related Genes
MeSH Terms
Adult Base Sequence Child Chromosome Mapping Chromosomes, Human, Pair 14 DNA Primers Female Genes, Dominant Humans Male Molecular Sequence Data Pedigree Spastic Paraplegia, Hereditary/genetics
Chemicals
DNA Primers
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Hazan J
Unité de Génétique Moléculaire Humaine, CNRS URA 1445, Institut Pasteur, Paris, France.
Lamy C
Melki J
Munnich A
de Recondo J
Weissenbach J
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
1993-10-00
Pages
163-7
Language
English
Region
United States
NLM ID
9216904
Subset
IM
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