Infantile Childhood Onset of Spinocerebellar Ataxia Type 2
Infantile Childhood Onset of Spinocerebellar Ataxia Type 2
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DOI：
10.1007/s12311-011-0315-9
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发表时间：
2012-06-01
期刊：
影响因子：
3.5
通讯作者：
Casali, Carlo
中科院分区：
文献类型：
--
作者：
Di Fabio, Roberto;Santorelli, Filippo;Casali, Carlo
脊髓小脑性共济失调2型（SCA 2）是一种迟发性常染色体显性小脑性共济失调，由ATX 2基因CAG/CTG三联体扩增引起。最初的症状通常出现在受试者30多岁时。儿童发病较不常见，通常与较大的三联体扩增有关。我们在此报告一个一岁女童的病例，她表现为面部畸形、张力障碍、发育迟缓及视网膜色素变性。在她父亲进行SCA 2的分子诊断之前，她被诊断为携带扩增的CAG/CTG束（92个重复）。面部畸形与儿童早期发育迟缓和视网膜色素变性有关，应促使对共济失调进行仔细的家庭调查和ATX 2的研究。
Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s. Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa. She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.