Literature DB >> 8344010

Hereditary spastic paraparesis. Clinical and genetic data from a large Dutch family.

R P Bruyn1, J van Deutekom, R R Frants, G W Padberg.   

Abstract

A large Dutch family is presented with pure hereditary spastic paraparesis. Pedigree analysis indicates autosomal dominant inheritance with complete penetrance and possibly anticipation in successive generations. These observations may have implications for genetic studies. Linkage studies in this family have excluded more than 40% of the autosomal genome.

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Year:  1993        PMID: 8344010     DOI: 10.1016/0303-8467(93)90006-3

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


  2 in total

1.  Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome.

Authors:  J C van Deutekom; R P Bruyn; N van den Boorn; L A Sandkuijl; G W Padberg; R R Frants
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

2.  Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Authors:  S Gispert; N Santos; R Damen; T Voit; J Schulz; T Klockgether; G Orozco; F Kreuz; J Weissenbach; G Auburger
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

  2 in total

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