Gunasekaran Aravind, Holla Vikram V, Phulpagar Prashant, Kamath Sneha D, Kamble Nitish, Yadav Ravi, Muthusamy Babylakshmi, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Institute of Bioinformatics, International Technology Park, Bangalore, India.
J Mov Disord. 2024 Oct;17(4):436-441. doi: 10.14802/jmd.24157. Epub 2024 Sep 19.
Recessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations.
We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.
A total of 7 patients whose median age at onset was 33 years (range: 20-49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel.
PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.
PINK1基因中的隐性变异是早发性帕金森病（EOPD）的已知病因。描述携带双等位基因PINK1变异的帕金森病患者的临床特征和基因谱。
我们对数据库中携带双等位基因PINK1变异患者的人口统计学、临床和基因细节进行了回顾性病历审查。
共招募了7例患者，发病年龄中位数为33岁（范围：20 - 49岁）。所有患者均为不对称起病，4例患者出现震颤，2例患者出现异常姿势，1例患者出现运动迟缓。6例患者出现帕金森综合征表型（4例伴有肌张力障碍），1例出现孤立性肌张力障碍。在6例帕金森综合征患者中，5例有静止性震颤，所有患者对左旋多巴反应良好，4例有运动波动并伴有舞蹈样异动症。外显子组测序揭示了双等位基因致病性/可能致病性变异，其中5种为新发现的变异。
PARK - PINK1表现为以震颤为主的早发性帕金森病，对左旋多巴反应良好，早期出现运动波动和异动症。我们描述了PINK1基因中的5种新变异。
