Autosomal recessive Parkinson disease 14
Autosomal recessive Parkinson disease 14
Definition
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Also known as autosomal recessive Parkinson disease type 14, dystonia-parkinsonism, Paisan-Ruiz type, hereditary late onset Parkinson disease caused by mutation in PLA2G6, PARK14, PLA2G6 hereditary late onset Parkinson disease, PLA2G6-related dystonia-parkinsonism — per MONDO