title: C19orf12 mutation leads to a pallido-pyramidal syndrome.
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.
authors.affiliation: Sanford Children's Health Research Center, Sioux Falls, SD, USA; Division of Pediatric Neurology, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA. Electronic address: michael.kruer@sanfordhealth.org.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Kruer
authors.affiliation: Division of Pediatric Neurology, College of Medicine, King Saud University,Riyadh, Saudi Arabia.
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
authors.affiliation: School of Medicine and Medical Science, University College Dublin, Dublin, Ireland, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Mooney
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Jawahir
authors.initials: J
authors.lastname: Alzahrani
authors.affiliation: Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Salah A
authors.initials: SA
authors.lastname: Elmalik
authors.affiliation: Department of Neurosciences, Armed Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Mohammad M
authors.initials: MM
authors.lastname: Kabiraj
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.affiliation: Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UK.
authors.forename: Reema
authors.initials: R
authors.lastname: Paudel
authors.affiliation: Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UK.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.affiliation: Department of Medical Genetics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
authors.forename: Hamid
authors.initials: H
authors.lastname: Azzedine
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan
authors.initials: F
authors.lastname: Alkuraya
mesh_terms: D000293:Adolescent; D020816:Amino Acid Motifs; D001764:Blepharospasm / Q000209:etiology / Q000235:genetics*; D003198:Computer Simulation; D003241:Consanguinity; D005260:Female; D005917:Globus Pallidus; D006720:Homozygote; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010302:Parkinson Disease, Secondary / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins
keywords: BAER; CMAP; DML; ERG; MCV; MRI; Mb; Movement disorders; NBIA; Neurodegenerative disease; Neurogenetics; SNAP; VEP; base pairs; bp; brainstem auditory evoked response; compound motor action potential; distal motor latency; electroretinogram; magnetic resonance imaging; megabase; motor conduction velocity; neurodegeneration with brain iron accumulation; sensory nerve action potential; visual evoked potential