具有胼胝体变薄的复杂运动障碍异常表型的新型致病变异：病例报告
Novel Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.
作者信息
Nicita Francesco, Travaglini Lorena, Bombelli Francesco, Tosi Michele, Pro Stefano, Bertini Enrico, D'Amico Adele
机构信息
Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
出版信息
Neurol Genet. 2021 Mar 3;8(2):e661. doi: 10.1212/NXG.0000000000000661. eCollection 2022 Apr.
OBJECTIVES
To report a novel association between pathogenic variants in the gene and complex movement disorder with thin corpus callosum (TCC).
METHODS
Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described.
RESULTS
The c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in (NM_016,955.3) were discovered.
DISCUSSION
This case represents a novel form of early-onset pyramidal syndrome with optic nerve hypoplasia, which slowly evolved to extrapyramidal syndrome featuring dystonia-parkinsonism, associated with TCC, caused by pathogenic variants. This form enlarges the group of the so-called pyramidal-extrapyramidal syndromes, as well as complex hereditary spastic paraparesis with TCC.
目的
报告某基因的致病性变异与伴有胼胝体变薄（TCC）的复杂运动障碍之间的一种新关联。
方法
对一名患有基因未明确的神经退行性疾病的成年患者进行了临床外显子组测序。描述了主要的临床、神经影像学和基因数据。
结果
在（NM_016,955.3）中发现了c.865C>T（p.P289S）和c.1297T>C（p.Y433H）错义变异。
讨论
该病例代表了一种伴有视神经发育不全的早发性锥体综合征的新形式，其缓慢演变为以肌张力障碍-帕金森综合征为特征的锥体外系综合征，与TCC相关，由致病性变异引起。这种形式扩大了所谓的锥体-锥体外系综合征以及伴有TCC的复杂遗传性痉挛性截瘫的范畴。
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