Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross C J, Tarailo-Graovac M, Wasserman W W, van Karnebeek C D M
Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada.
Neurogenetics. 2014 Aug;15(3):157-9. doi: 10.1007/s10048-014-0411-3. Epub 2014 Jun 24.
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.
我们报告了第二例因纯合性截短型AIMP1（g.107248613 C>T）突变导致的AIMP1缺乏症家族。该女性表现为早发性发育停滞、难治性癫痫痉挛、小头畸形，临床病程迅速，导致过早死亡，脑MRI显示伴有脑萎缩和髓鞘缺乏。临床和神经影像学表现与原发性神经元退行性疾病一致，而非先前报道的佩利措伊斯-默茨巴赫样表型。鉴于其在神经丝组装中的关键作用，髓鞘形成受损是由于神经元/轴突功能障碍。我们建议将AIMP1缺乏症纳入婴儿期起病的进行性神经退行性疾病的鉴别诊断中。
