Article
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.
Human mutation - 1 Sept 2012
Bettencourt Conceição, Quintáns Beatriz, Ros Raquel, Ampuero Israel, Yáñez Zuleima, Pascual Samuel Ignacio, de Yébenes Justo García, Sobrido María-Jesús
Abstract excerpt
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.