Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype.

以前，已显示基因内CAMTA1拷贝数变异体（CNV）会导致非进行性先天性共济失调，无论是否患有智力障碍（OMIM＃614756）。但是，共济失调，智障和畸形特征都不能完全渗透，即使在家庭内部也是如此。在这里，我们描述了四位从无意义，移码或错义CAMTA1变异的患者。所有四名患者主要表现为共济失调和/或痉挛。仅有一名患者存在边缘性智力障碍和畸形特征，其他神经和行为症状也存在差异。发现神经发育迟缓是轻度的。我们的发现表明，CAMTA1中还存在无意义，移码和错义变体 可以引起痉挛性共济失调综合征为主要表型。