Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
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DOI：
10.1007/s00415-021-10712-5
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发表时间：
2022-03
影响因子：
6
通讯作者：
Santorelli FM
中科院分区：
文献类型：
--
作者：
De Michele G;Galatolo D;Galosi S;Mignarri A;Silvestri G;Casali C;Leuzzi V;Ricca I;Barghigiani M;Tessa A;Cioffi E;Caputi C;Riso V;Dotti MT;Saccà F;De Michele G;Cocozza S;Filla A;Santorelli FM
脊髓小脑性共济失调14型（SCA14）是一种以缓慢进行性小脑性共济失调为特征的显性遗传性神经系统疾病。SCA14是由PRKCG突变引起的，PRKCG是一种编码蛋白激酶Cγ (PKCγ)的基因，PKCγ是浦肯野细胞发育的主要调节因子。我们对358例遗传上未诊断的共济失调患者进行了新一代测序靶向重测序，包括273个共济失调基因。我们在10个家族中发现了14例携带9种致病性PRKCG杂合变异体的患者，其中7种是新发现的。我们遇到了4例以前没有描述过的表型的患者：1例有发作性共济失调，1例有痉挛性麻痹主导她的临床表现，2例儿童有异常严重的表型。我们的研究拓宽了SCA14的遗传和临床谱。在线版本包含补充材料，可在10.1007/s00415-021-10712-5获得。
Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype. Our study broadens the genetic and clinical spectrum of SCA14. The online version contains supplementary material available at 10.1007/s00415-021-10712-5.
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影响因子：
3.5
作者：
Koht, J.;Stevanin, G.;Tallaksen, C. M. E.
通讯作者：
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