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Publication Detail
C19orf12 mutation leads to a pallido-pyramidal syndrome.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F
  • Publication date:
    10/03/2014
  • Pagination:
    352, 356
  • Journal:
    Gene
  • Volume:
    537
  • Issue:
    2
  • Status:
    Published
  • Country:
    Netherlands
  • PII:
    S0378-1119(13)01565-5
  • Language:
    eng
  • 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, Adolescent, Amino Acid Motifs, Blepharospasm, Computer Simulation, Consanguinity, Female, Globus Pallidus, Homozygote, Humans, Male, Mitochondrial Proteins, Mutation, Parkinson Disease, Secondary, Pedigree, Saudi Arabia, Young Adult
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.
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