Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
Ann Clin Transl Neurol. 2020 Apr;7(4):595-601. doi: 10.1002/acn3.51024. Epub 2020 Apr 1.
Mutations in the ATPase family 3-like gene (AFG3L2) have been linked to autosomal-dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia-neuropathy syndrome. Here, we describe the case of a child carrying bi-allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. Studies in skin fibroblasts showed a significant reduction of AFG3L2 expression. The relatively mild clinical presentation and the benign course, in spite of severe neuroimaging features, distinguish this case from data reported in the literature, and therefore expand the spectrum of neurological and neuroradiological features associated with AFG3L2 mutations.
ATP 酶家族 3 样基因（AFG3L2）的突变与常染色体显性遗传性小脑共济失调 28 型和常染色体隐性痉挛性共济失调神经病有关。本文描述了一例携带 AFG3L2 双等位基因突变的儿童，其发作性癫痫发作与神经影像学提示基底节受累有关。皮肤成纤维细胞研究显示 AFG3L2 表达显著减少。尽管神经影像学特征严重，但相对较轻的临床表现和良性病程与文献报道的数据不同，因此扩展了与 AFG3L2 突变相关的神经和神经影像学特征谱。
