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J Neurol. 2012 Feb;259(2):246-50. doi: 10.1007/s00415-011-6155-1. Epub 2011 Jul 2.

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

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Laboratory of Molecular Genetics, Laboratory of Medicine, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.


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.

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