METHODS: Here we report the case of a boy with cerebellar ataxia who came to our clinic due to his cervical dystonia in the form of retrocollis. He presented an early-onset, non-progressive cerebellar ataxia, with cognitive impairment and delayed motor milestones. Whole exome sequencing (WES) revealed an heterozygous nucleotide variation, c.829A > C (p.Ser277Arg) in ITPR1 gene (NM_001168272.1), a de novo ITPR1 variant, as his parents came up with negative genetic testing. Due to his clinical presentation and genetic result, we came up with the diagnosis of SCA 29.
CONCLUSIONS: We described cervical dystonia as a phenotypic feature of ITPR1 related SCA 29, found in a new de novo ITPR1-variant.
方法:在这里,我们报告了一个小脑性共济失调的男孩,由于他的颈肌张力障碍以逆行形式来到我们的诊所。他提出了一个早期发作,非进行性小脑共济失调,认知障碍和运动里程碑延迟。全外显子组测序(WES)揭示了一个杂合的核苷酸变异,c.829A>C(p.Ser277Arg)在ITPR1基因(NM_001168272.1)中,从头ITPR1变体,因为他的父母提出了阴性基因检测。由于他的临床表现和遗传结果,我们得出了SCA29的诊断。
结论:我们将宫颈肌张力障碍描述为ITPR1相关SCA29的表型特征,发现于一个新的从头ITPR1变体中。