Spinocerebellar ataxia type 14.
Spinocerebellar ataxia type 14.
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DOI：
10.1016/b978-0-444-51892-7.00036-x
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发表时间：
2012-01-01
影响因子：
--
通讯作者：
Bird, Thomas D
中科院分区：
文献类型：
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作者：
Chen, Dong-Hui;Raskind, Wendy H;Bird, Thomas D
SCA14 是一种常染色体显性遗传性小脑性共济失调，通常在成年早期至中期发病，进展缓慢，寿命正常。虽然通常是一种简单的小脑性共济失调，伴有步态不平衡、构音障碍和眼球震颤，但偶尔也会出现感觉丧失、腱反射亢进、认知能力下降或肌阵挛。脑部 MRI 显示小脑萎缩。一次尸检显示小脑浦肯野细胞丢失。该疾病是由蛋白激酶 C γ (PKCgamma、PRKCG) 基因突变引起的，其中外显子 4 存在突变热点。SCA14 的基因检测已在临床上可用。
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there is occasionally sensory loss, hyperactive tendon reflexes, cognitive decline, or myoclonus. Brain MRI shows cerebellar atrophy. A single autopsy has shown loss of cerebellar Purkinje cells. The disease is caused by mutations in the protein kinase C gamma (PKCgamma, PRKCG) gene with a hotspot for mutations in exon 4. Genetic testing for SCA14 is clinically available.