Blumkin Lubov, Michelson Marina, Leshinsky-Silver Esther, Kivity Sara, Lev Dorit, Lerman-Sagie Tally
Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel- Aviv University, Holon, Israel.
J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316. Epub 2010 Jan 21.
The CACNA1A gene encodes the pore forming alpha-1A subunit of neuronal voltage-dependent P/Q-type Ca( 2+) channels. Mutations in this gene result in clinical heterogeneity, and present with either chronic progressive symptoms, paroxysmal events, or both, with clinical overlap among the different phenotypes. The authors describe a seven year-old boy with mental retardation and congenital cerebellar ataxia that developed dyskinesia at the age of a few months, and recurrent episodes of coma following mild head trauma associated with motor and autonomic signs, from the second year of life. An extensive metabolic evaluation, interictal electroencephalography (EEG), and muscle biopsy were normal. Brain magnetic resonance imaging (MRI) during one of these episodes revealed edema of the right hemisphere and cerebellar atrophy. Genetic testing revealed a R1350Q mutation in the CACNA1A gene. This is a novel de novo mutation.Congenital cerebellar ataxia can be a result of CACNA1A mutations, especially when associated with recurrent unexplained coma.
CACNA1A基因编码神经元电压依赖性P/Q型钙（2+）通道的孔形成α-1A亚基。该基因的突变导致临床异质性，表现为慢性进行性症状、阵发性事件或两者兼有，不同表型之间存在临床重叠。作者描述了一名7岁男孩，患有智力障碍和先天性小脑共济失调，几个月大时出现运动障碍，从生命的第二年起，在轻度头部外伤后反复出现昏迷，并伴有运动和自主神经体征。广泛的代谢评估、发作间期脑电图（EEG）和肌肉活检均正常。其中一次发作期间的脑磁共振成像（MRI）显示右半球水肿和小脑萎缩。基因检测发现CACNA1A基因存在R1350Q突变。这是一种新的新发突变。先天性小脑共济失调可能是CACNA1A突变的结果，尤其是当与反复出现的不明原因昏迷相关时。
