Article: article from journal or magazin.
C19orf12 mutation leads to a pallido-pyramidal syndrome.
Publication types: Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't Publication Status: ppublish PDF: Short Communication
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.
Adolescent, Amino Acid Motifs, Blepharospasm/etiology, Blepharospasm/genetics, Computer Simulation, Consanguinity, Female, Globus Pallidus, Homozygote, Humans, Male, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Mutation, Parkinson Disease, Secondary/etiology, Parkinson Disease, Secondary/genetics, Pedigree, Saudi Arabia, Young Adult
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