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AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset |
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| Authors: | L. Armstrong R. Biancheri C. Shyr A. Rossi G. Sinclair C. J. Ross M. Tarailo-Graovac W. W. Wasserman C. D. M. van Karnebeek |
| Affiliation: | 2. Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada 4. B.C. Children’s and Women’s Hospital, Vancouver, Canada 5. University of British Columbia, Vancouver, BC, Canada 6. Child Neurology and Psychiatry Unit, Istituto G. Gaslini, Genoa, Italy 3. Center for Molecular Medicine and Therapeutics; Child and Family Research Institute, Vancouver, Canada 7. Pediatric Neuroradiology Unit, Istituto G. Gaslini, Genoa, Italy 1. Division of Biochemical Diseases, Department of Pediatrics, B.C. Children’s Hospital, Centre for Molecular Medicine & Therapeutic, University of British Columbia, Rm K3-201 4480 Oak Street, Vancouver, BC, V6H 3 V4, Canada |
| 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. |
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