Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy.
Eur J Paediatr Neurol. 2012 May;16(3):248-56. doi: 10.1016/j.ejpn.2011.07.016. Epub 2011 Aug 27.
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.
儿童小脑共济失调，尤其是先天性共济失调，是一组异质性疾病，其中一些仍未明确。我们对先天性共济失调患者和磁共振成像显示小脑萎缩的迟发性未明原因共济失调患儿进行了肌肉活检。在连续筛查的 34 名患者中，有 9 名患者的骨骼肌中发现辅酶 Q10（COQ10）水平显著降低。一名伴发共济失调、癫痫发作和 COQ10 水平明显降低的女性患者被发现存在 ADCK3/Coq8 基因突变（R347X）。一名 2.5 岁的男性患儿患有非综合征性先天性共济失调，肌肉活检中存在自噬空泡，我们在 SIL1 基因中发现了纯合无义突变 R111X，这导致了 Marinesco-Sjogren 综合征的早期诊断。我们认为肌肉活检是一种有价值的方法，可以提高先天性共济失调或其他迟发性儿童共济失调的诊断评估，这些疾病在磁共振成像上与小脑萎缩有关。
