Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
0.040 GeneticVariation disease BEFREE We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. 20452812 2010
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
0.040 GeneticVariation disease BEFREE Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). 17196872 2007
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
0.040 GeneticVariation disease BEFREE Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. 12056930 2002
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
0.040 GeneticVariation disease BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138 2002