AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-08

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

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. More... »

PAGES

157-159

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-014-0411-3

DOI

http://dx.doi.org/10.1007/s10048-014-0411-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008444285

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24958424


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