The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
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DOI：
10.1016/j.ejpn.2011.07.016
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发表时间：
2012-05
影响因子：
3.1
通讯作者：
Bertini, Enrico
中科院分区：
文献类型：
--
作者：
Terracciano, Alessandra;Renaldo, Florence;Zanni, Ginevra;D'Amico, Adele;Pastore, Anna;Barresi, Sabina;Valente, Enza Maria;Piemonte, Fiorella;Tozzi, Giulia;Carrozzo, Rosalba;Valeriani, Massimiliano;Boldrini, Renata;Mercuri, Eugenio;Santorelli, Filippo Maria;Bertini, Enrico
儿童小脑共济失调，特别是先天性共济失调，是异质性疾病，其中一些尚未明确。我们对先天性共济失调和迟发性共济失调患儿进行了肌肉活检，这些患儿有小脑萎缩的神经影像学证据。在连续筛选的34名患者中，9名患者的骨骼肌中发现辅酶Q10（COQ 10）水平显著降低。ADCK 3/Coq 8基因突变（R347 X）在一名患有共济失调、癫痫发作和COQ 10水平显著降低的女性患者中被发现。在一个2.5岁的男性非综合征性先天性共济失调和自噬空泡的肌肉活检中，我们发现了一个纯合的无义突变SIL 1基因R111 X突变，导致早期诊断Marinesco-Sjogren综合征。我们认为，肌肉活检是一个有价值的程序，以提高诊断评估儿童先天性共济失调或其他形式的儿童迟发性共济失调与小脑萎缩的MRI。
Childhood cerebellar ataxias, and particularly congenital ataxias, are heterogeneous disorders and several remain undefined. We performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. Significant reduced levels of Coenzyme Q10 (COQ10) were found in the skeletal muscle of 9 out of 34 patients that were consecutively screened. A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI.
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