Article
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia.
American journal of medical genetics - 23 Apr 1999
Thurmon T F, He C, Haskell C, Thorpe P, Thurmon S G, Rosen D R
Abstract excerpt
We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to determine if anticipation is present in this family. Analysis of onset ages in parent-to-child transmissions of HSP...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
