Mondo Description Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
Uniprot Description An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
Mondo Term and Equivalent IDs
MONDO:0014742: Parkinson disease 22, autosomal dominant