neurogenetics

, Volume 15, Issue 3, pp 157–159 | Cite as

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
Short Communication

Abstract

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.

Keywords

Seizures Epilepsy Microcephaly Developmental delay Hypomyelination Cerebral atrophy Neuron Genomics 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • L. Armstrong
    • 2
    • 4
    • 5
  • R. Biancheri
    • 6
  • C. Shyr
    • 2
    • 3
    • 5
  • A. Rossi
    • 7
  • G. Sinclair
    • 2
    • 4
    • 5
  • C. J. Ross
    • 2
    • 3
    • 4
    • 5
  • M. Tarailo-Graovac
    • 2
    • 3
    • 5
  • W. W. Wasserman
    • 2
    • 3
    • 5
  • C. D. M. van Karnebeek
    • 1
    • 2
    • 3
    • 4
    • 5
  1. 1.Division of Biochemical Diseases, Department of PediatricsB.C. Children’s Hospital, Centre for Molecular Medicine & Therapeutic, University of British ColumbiaVancouverCanada
  2. 2.Treatable Intellectual Disability Endeavour in British ColumbiaVancouverCanada
  3. 3.Center for Molecular Medicine and Therapeutics; Child and Family Research InstituteVancouverCanada
  4. 4.B.C. Children’s and Women’s HospitalVancouverCanada
  5. 5.University of British ColumbiaVancouverCanada
  6. 6.Child Neurology and Psychiatry UnitIstituto G. GasliniGenoaItaly
  7. 7.Pediatric Neuroradiology UnitIstituto G. GasliniGenoaItaly

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