Article
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
NeuroImage. Clinical - 1 Jan 2018
Faber Ingrid, Martinez Alberto Rolim Muro, de Rezende Thiago Junqueira Ribeiro, Martins Carlos Roberto, Martins Melina Pazian, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Lopes-Cendes Íscia, França Marcondes Cavalcante
Abstract excerpt
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected. Despite this, anatomical and phenotypic characterization is restricted. In the present study, we investigate the anatomical abnormalities related to SPG11 mutations and how they relate to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.