Journal Article


Fowzan Alkuraya
Hamid Azzedine
Henry Houlden
Reema Paudel
Arif O Khan
Mohammad M Kabiraj
Salah A Elmalik
Jawahir Alzahrani
Catherine Mooney
Mustafa A Salih
and 1 others



iron mutation mapping deposition syndrome family brain genes

C19orf12 mutation leads to a pallido-pyramidal syndrome. (2013)

Abstract 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.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Fowzan Alkuraya, Hamid Azzedine, Henry Houlden, Reema Paudel, Arif O Khan, Mohammad M Kabiraj, Salah A Elmalik, Jawahir Alzahrani, Catherine Mooney, Mustafa A Salih and 1 others

Experts in our system

Henry Houlden
University College Dublin
Catherine Mooney
University College Dublin
Total Publications: 63