AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Title
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Creator
Armstrong L; Biancheri R; Shyr C; Rossi A; Sinclair G; Ross CJ; Tarailo-Graovac M; Wasserman WW; van Karnebeek CD
Identifier
Publisher
Neurogenetics
Date
2014
Subject
Female; Humans; infant; Mutation; Age Factors; Brain; Neurodegenerative Diseases; Newborn; Cytokines; Neoplasm Proteins; RNA-Binding Proteins; White Matter
Description
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.
2014-08
Rights
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Type
Journal Article
Citation List Month
Backlog
URL Address
Citation
Armstrong L; Biancheri R; Shyr C; Rossi A; Sinclair G; Ross CJ; Tarailo-Graovac M; Wasserman WW; van Karnebeek CD, “AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset,” Pediatric Palliative Care Library, accessed April 19, 2024, https://pedpalascnetlibrary.omeka.net/items/show/15061.