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Text
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<a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10048-014-0411-3</a>
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Title
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AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Publisher
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Neurogenetics
Date
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2014
Subject
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Female; Humans; infant; Mutation; Age Factors; Brain; Neurodegenerative Diseases; Newborn; Cytokines; Neoplasm Proteins; RNA-Binding Proteins; White Matter
Creator
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Armstrong L; Biancheri R; Shyr C; Rossi A; Sinclair G; Ross CJ; Tarailo-Graovac M; Wasserman WW; van Karnebeek CD
Description
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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
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<a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">10.1007/s10048-014-0411-3</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2014
Age Factors
Armstrong L
Backlog
Biancheri R
Brain
Cytokines
Female
Humans
Infant
Journal Article
Mutation
Neoplasm Proteins
Neurodegenerative Diseases
Neurogenetics
Newborn
RNA-Binding Proteins
Ross CJ
Rossi A
Shyr C
Sinclair G
Tarailo-Graovac M
van Karnebeek CD
Wasserman WW
White Matter