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....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008284/
https://www.ncbi.nlm.nih.gov/pubmed/29946510
http://dx.doi.org/10.1016/j.nicl.2018.05.031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008284/
https://www.ncbi.nlm.nih.gov/pubmed/29946510
http://dx.doi.org/10.1016/j.nicl.2018.05.031

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