早发性帕金森综合征：病例报告及文献综述
Early-Onset Parkinsonism: Case Report and Review of the Literature.
作者信息
Al-Rumayyan Ahmed, Klein Christine, Alfadhel Majid
机构信息
King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Institute of Neurogenetics, University of Luebeck, Germany.
出版信息
Pediatr Neurol. 2017 Feb;67:102-106.e1. doi: 10.1016/j.pediatrneurol.2015.06.005. Epub 2015 Oct 23.
BACKGROUND
Early-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade of life, slow disease progression, resting tremor, rigidity, bradykinesia, postural instability, and levodopa-induced dyskinesia.
METHODS
We evaluated a child with early-onset symptoms and performed a literature review for previously reported examples of children aged 18 years or less with PINK1 gene defects.
RESULTS
We describe a five-year-old boy with autosomal recessive early-onset parkinsonism caused by a homozygous missense mutation in the PINK1 gene. This is the youngest individual yet reported with early-onset parkinsonism.
CONCLUSION
PINK1-type of early-onset parkinsonism can occur in very young patients, and phenotypic expression of PINK1 mutations may depend on age of onset and ethnicity.
背景
早发性帕金森症可由PTEN诱导的假定激酶1（PINK1）基因缺陷引起，其通常特征为发病年龄在人生的第四个十年，疾病进展缓慢，静止性震颤、僵硬、运动迟缓、姿势不稳以及左旋多巴诱发的运动障碍。
方法
我们评估了一名有早发症状的儿童，并对先前报道的18岁及以下患有PINK1基因缺陷的儿童病例进行了文献综述。
结果
我们描述了一名因PINK1基因纯合错义突变导致常染色体隐性早发性帕金森症的五岁男孩。这是迄今报道的患有早发性帕金森症最年幼的个体。
结论
PINK1型早发性帕金森症可发生于非常年幼的患者，且PINK1突变的表型表达可能取决于发病年龄和种族。
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