C19orf12 mutation leads to a pallido-pyramidal syndrome

Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.

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.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins

Supplementary concepts

  • Pallidopyramidal syndrome