AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

L. Armstrong, R. Biancheri, C. Shyr, A. Rossi, G. Sinclair, C. J. Ross, M. Tarailo-Graovac, W. W. Wasserman, C. D M Van Karnebeek

Research output: Contribution to journalArticlepeer-review


We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C>T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.

Original languageEnglish
Pages (from-to)157-159
Number of pages3
Issue number3
Publication statusPublished - 2014


  • Cerebral atrophy
  • Developmental delay
  • Epilepsy
  • Genomics
  • Hypomyelination
  • Microcephaly
  • Neuron
  • Seizures

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics
  • Medicine(all)


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