ATP13A2-related juvenile-onset Parkinson disease

Recently we have published a case report describing a 10-year-old child who had juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment. Whole exome sequencing showed compound heterozygosity for two ATP13A2 novel mutations supporting the diagnosis of ATP13A2-related juvenile-onset Parkinson disease [1]. Subsequently, a letter was published with comments related to our publication [2]. Herein, we respond to the comments and queries raised in that letter.
Source: Brain and Development - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research