Estamos realizando la búsqueda. Por favor, espere...
1583
37
170
29013
4402
2599
347
386
Abstract: Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between common mtDNA polymorphisms and spastic paraplegia. The ten mtDNA polymorphisms that defined the common European haplogroups were determined in 424 patients, 19% with a complicated phenotype. A rare haplogroup was associated with the disease in patients without a SPG3A, SPG4, or SPG7 mutation. Allele 10398G was more frequent among patients with a pure versus complicated phenotype. This mtDNA polymorphism was previously associated with the risk of developing other neurodegenerative diseases. In conclusion, some mtDNA polymorphisms could contribute to the development of spastic paraplegia or act as modifiers of the phenotype.
Fuente: Journal of Neurology, 2012, 259(2), 246-250
Editorial: Springer
Fecha de publicación: 01/02/2012
Nº de páginas: 5
Tipo de publicación: Artículo de Revista
DOI: 10.1007/s00415-011-6155-1
ISSN: 0340-5354,1432-1459
Url de la publicación: https://doi.org/10.1007/s00415-011-6155-1
Leer publicación
SÁNCHEZ-FERRERO, ELENA
COTO, ELIECER
CORAO, ANA
DÍAZ, MARTA
GÁMEZ, JOSEP
ESTEBAN, JESÚS
GONZALO, JUAN F.
PASCUAL-PASCUAL, SAMUEL I.
LÓPEZ DE MUNAÍN, ADOLFO
MORÍS, GERMÁN
JON INFANTE CEBERIO
CASTILLO, EMILIA DEL
MÁRQUEZ, CELEDONIO
ÁLVAREZ, VICTORIA
Volver