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

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

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

Journal Article

Citation List Month

Backlog

Pages

157-159

Issue

3

Volume

15

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 July 24, 2021, https://pedpalascnetlibrary.omeka.net/items/show/15061.

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