SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

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....

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Neuroimage Clin
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Elsevier 2018
Sujets:
Regular Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6008284/
https://ncbi.nlm.nih.gov/pubmed/29946510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nicl.2018.05.031
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