PTRHD1 Loss ‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

Conclusion: Together with the previous reports, we provide conclusive evidence that loss ‐of‐function mutations inPTRHD1 cause autosomal ‐recessive juvenile parkinsonism and intellectual disability. © 2018 International Parkinson and Movement Disorder Society

Source: Movement Disorders - November 6, 2018 Category: Neurology Authors: Demy J.S. Kuipers, Jonathan Carr, Soraya Bardien, Pearl Thomas, Boiketlo Sebate, Guido J. Breedveld, Rick van Minkelen, Rutger W.W. Brouwer, Wilfred F.J. van Ijcken, Marjon A. van Slegtenhorst, Vincenzo Bonifati, Marialuisa Quadri Tags: Brief Report Source Type: research