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GENATLAS PHENOTYPE
last update : 18-07-2013
Symbol NBIA4
Location 19q12
Name neurodegeneration with brain iron accumulation 4
Other name(s) beta-propeller protein-associated neurodegeneration
Corresponding gene C19orf12
Other symbol(s) BPAN, MPAN
Main clinical features
  • extrapyramidal features, with progressive spasticity and optic atrophy, psychiatric symptoms and cognitive decline PMID:23857908
  • dysarthria, psychomotor slowness, brisk reflexes, mild weakness and atrophy in the distal extremities, and small, pale optic discs PMID:23857908
  • Electromyography showed denervation changes over multiple body segments, worse distally, consistent with a motor neuropathy. Brain MRI imaging showed symmetrical excess iron deposition in the globus pallidus PMID:23857908
    • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Gene product
    Name chromosome 19 open reading frame 12
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     c.187G>C; p.Ala63Pro PMID:23857908
    deletion     c.197_199del; p.Gly66del PMID:23857908
    Remark(s)