ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease

Parkinson disease is a common neurodegenerative disease that typically starts around the age of 60  years; however, juvenile-onset disease can occur rarely. Although Parkinson disease is typically sporadic; in rare occasions, it can be caused by a single gene defect that is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Herein, we describe a 10-year-old child who h ad juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research