Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype
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引用次数: 0
Abstract
A girl had been seen at 15 months of age for developmental expressive language and gross motor delays and had subsequent serially normal neurological evaluations until age 6 years when she developed a new abnormality of gait clinically similar to a paroxysmal kinesigenic dyskinesia for which she tested negative. Multiple maternal family members were known to have a pathogenetic variant in N-α-acetyltransferase 10 (NAA10) [c.235C>T (p.R79C)]. The appearance of a gait disorder in association with NAA10-related syndrome has not been previously described and expands the phenotype of this disorder to include this novel neurological symptom. The relevant literature of the very few cases of NAA10-related syndrome that include passing mention of any movement or gait abnormality is reviewed.
一个女孩在15个月大时被诊断为发育性表达性语言和大运动迟缓，随后进行了一系列正常的神经学评估，直到6岁时，她出现了新的步态异常，临床上类似于阵发性运动障碍，她的检测结果为阴性。已知多个母系家庭成员具有N-α-乙酰转移酶10 （NAA10）的致病变异[c]。235 c > T (p.R79C)]。与naa10相关综合征相关的步态障碍的出现以前没有被描述过，并且扩展了这种疾病的表型，包括这种新的神经症状。我们回顾了极少数naa10相关综合征病例的相关文献，其中包括任何运动或步态异常。
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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