Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
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DOI：
10.1136/jnnp-2012-302568
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发表时间：
2012-09
期刊：
影响因子：
--
通讯作者：
Chinnery PF
中科院分区：
文献类型：
--
作者：
Pfeffer G;Blakely EL;Alston CL;Hassani A;Boggild M;Horvath R;Samuels DC;Taylor RW;Chinnery PF
成年期出现的脊髓小脑性共济失调综合征有多种原因，尽管进行了广泛的调查，仍有高达约 50% 的病例未确诊。线粒体编码的 MTATP6 基因的突变通常会导致婴儿期发病的 Leigh 综合征，有时会在儿童后期发病。我们报告了两个在成年后出现共济失调的家庭（不同程度地存在锥体功能障碍和/或周围神经病变），他们在临床上与其他脊髓小脑共济失调患者没有区别。 64个不明原因共济失调家系MTATP6基因遗传筛查研究及2个MTATP6突变家系病例系列研究三个家系存在 MTATP6 突变，其中两个以前未曾报道过，本报告对此进行了详细介绍。这些家族分别具有 m.9185T>C 和 m.9035T>C 突变，此前并未发现这些突变与成人发病的小脑综合征相关。其他检查，包括肌肉活检和呼吸链酶活性，均为非特异性或正常。即使其他检查没有提示线粒体 DNA 疾病，在检查未确诊的共济失调时也应考虑 MTATP6 测序。
Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to ~50% cases. Mutations in the mitochondrially-encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and occasionally have onset later in childhood. We report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients. Genetic screening study of the MTATP6 gene in 64 pedigrees with unexplained ataxia, and case series of two families who had MTATP6 mutations. Three pedigrees had mutations in MTATP6, two of which have not been reported previously and are detailed in this report. These families respectively had the m.9185T>C and m.9035T>C mutations, which have not previously been associated with adult-onset cerebellar syndromes. Other investigations including muscle biopsy and respiratory chain enzyme activity were nonspecific or normal. MTATP6 sequencing should be considered in the workup of undiagnosed ataxia, even if other investigations do not suggest a mitochondrial DNA disorder.
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