Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Beatriz De la Casa-FagesGorka Fernández-EulateJosep GamezRaúl Barahona-HernandoGermán MorísMaría García-BarcinaJon InfanteMiren ZulaicaUxoa Fernández-PelayoMikel Muñoz-OrejaMiguel UrtasunAnder OlaskoagaVictoria ZelayaIvonne JericóRaquel Saez-VillaverdeIrene CatalinaEmma SolaElena Martínez-SáezAurora PujolMontserrat RuizAgatha SchlüterAntonella SpinazzolaJose Luis Muñoz-BlancoFrancisco GrandasIan HoltVictoria ÁlvarezAdolfo López de MunaínPublished in: Movement disorders : official journal of the Movement Disorder Society (2019)
Parkinsonism is a frequent finding in spastic paraplegia type 7 patients. Spastic paraplegia type 7 pathogenic variants impair mitochondrial DNA homeostasis irrespective of the number of mutant alleles, type of variant, and patient or carrier status. Thus, spastic paraplegia type 7 supports mitochondrial DNA maintenance, and variants in the gene may cause parkinsonism owing to mitochondrial DNA abnormalities. Moreover, mitochondrial DNA blood analysis could be a useful biomarker to detect at risk families. © 2019 International Parkinson and Movement Disorder Society.