一名患有先天性副肌张力障碍的女性患者。第二部分:SCN4A 对大脑发育的贡献

Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata
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摘要

背景SCN4A编码电压门控钠通道NaV1.4的α亚基,它负责产生动作电位和兴奋骨骼肌纤维。先天性副肌张力障碍(PMC)是一种先天性疾病,其特征是由于 SCN4A 的变异而导致的非萎缩性肌张力障碍。一直以来,SCN4A 被认为只在肌肉中表达,而大脑表型直到最近才有报道,包括对本质性震颤和癫痫的描述。患者是一名 20 岁女性,通过检测 SCN4A 中的 c.3917G>A,p.(Gly1306Glu) 变体,发现患有先天性副肌张力障碍。小鼠大脑我们用免疫组化方法证实了出生后 10 天的发育中小鼠大脑中 NaV 1.4 的表达,在整个大脑皮层、嗅球和中脑中均有表达,但在海马和小脑中没有表达。讨论NaV1.4在幼鼠大脑皮层有表达,但在成年小鼠中没有表达。由于我们的患者在婴儿期就表现出智力障碍和癫痫,因此认为 NaV1.4 参与了大脑的发育,并在某些情况下导致中枢神经系统症状。
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A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain

Background

SCN4A encodes the α-subunit of the voltage-gated sodium channel NaV1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of SCN4A. SCN4A has been considered to be exclusively expressed in muscles, and the brain phenotype has not been reported until recently, including descriptions of essential tremor and epilepsy.

Patient

The patient is a 20-year-old woman with PMC by detecting a c.3917G>A, p.(Gly1306Glu) variant in SCN4A. The patient also showed neurological symptoms, such as epilepsy, from 1 year old and intellectual disability (intelligence quotient 48).

Mouse brain

We confirmed the NaV 1.4 expression in the brain of developing mice, 10 days after birth, immunohistochemically, in the entire cerebral cortex, the olfactory bulb and the midbrain but not in the hippocampus or cerebellum. However, the NaV 1.4 expression was not detected in adult mouse cortex.

Discussion

NaV1.4 was shown to be expressed in the cerebral cortex of young mice but not in adults. Since our patient had shown intellectual disability and epilepsy from infancy, NaV1.4 was considered to be involved in the developing brain and cause central nervous system symptom in some situations.
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