Familial spastic paraplegia: evidence for a fourth locus

Autosomal dominant familial spastic paraparesis (AD-FSP) is a genetically heterogeneous disorder of the central nervous system characterized by a progressive spasticity of the legs. One gene causing AD-FSP (FSP1) has recently been mapped to chromosome 14q, another gene (FSP2) to chromosome 2p, and a...

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Veröffentlicht in:	Clinical neurology and neurosurgery 1997-05, Vol.99 (2), p.87-90
Hauptverfasser:	Bruyn, R.P.M., van Veen, M.M.M., Kremer, H., Scheltens, P.H., Padberg, G.W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Chromosome Aberrations - genetics Chromosome Disorders Chromosome Mapping Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 2 Familial spastic paraplegia Female Genes, Dominant - genetics Genetic linkage Genetic Linkage - genetics Heterogeneity Humans Male Microsatellite Repeats - genetics Middle Aged Netherlands Pedigree Polymerase Chain Reaction Spastic Paraplegia, Hereditary - genetics
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Beschreibung
Zusammenfassung:	Autosomal dominant familial spastic paraparesis (AD-FSP) is a genetically heterogeneous disorder of the central nervous system characterized by a progressive spasticity of the legs. One gene causing AD-FSP (FSP1) has recently been mapped to chromosome 14q, another gene (FSP2) to chromosome 2p, and a third gene (FSP3) to chromosome 15q. We now report a large Dutch family with AD-FSP without linkage to any of these chromosomes, providing evidence for a fourth locus (FSP4).
ISSN:	0303-8467 1872-6968
DOI:	10.1016/S0303-8467(97)80002-9