title: AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
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.
authors: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada.
authors: L
authors: L
authors: Armstrong
authors: R
authors: R
authors: Biancheri
authors: C
authors: C
authors: Shyr
authors: A
authors: A
authors: Rossi
authors: G
authors: G
authors: Sinclair
authors: C J
authors: CJ
authors: Ross
authors: M
authors: M
authors: Tarailo-Graovac
authors: W W
authors: WW
authors: Wasserman
authors: C D M
authors: CD
authors: van Karnebeek
mesh_terms: D000367:Age Factors; D001921:Brain / Q000473:pathology; D016207:Cytokines / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D009363:Neoplasm Proteins / Q000172:deficiency* / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D066127:White Matter / Q000473:pathology
chemical_list: D016207:Cytokines; D009363:Neoplasm Proteins; D016601:RNA-Binding Proteins; C077219:small inducible cytokine subfamily E, member 1