MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 GeneticVariation disease BEFREE Stratification was performed by clinical diagnosis (180 behavioural variant FTD (bvFTD), 85 semantic variant primary progressive aphasia (svPPA), 114 nonfluent variant PPA (nfvPPA), 15 PPA not otherwise specified (PPA-NOS), and 8 with associated motor neurone disease (FTD-MND), genetic diagnosis (27 MAPT, 28 C9orf72, 18 GRN), and pathological confirmation (37 tauopathy, 38 TDP-43opathy, 4 FUSopathy). 31696638 2020
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 GeneticVariation disease BEFREE Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism. 31027853 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 Biomarker disease BEFREE Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 30893702 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 Biomarker disease BEFREE GRN, C9ORF72, MAPT) have been excluded and when family history is complex and includes parkinsonism, motor neuron disease and frontotemporal dementia. 25853458 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 GeneticVariation disease BEFREE We therefore investigated 33 patients with FTLD-tau (including 9 with MAPT mutation) for TDP-43 pathological changes, and 45 patients with FTLD-TDP (including 12 with hexanucleotide expansion in C9ORF72 and 12 with GRN mutation), and 23 patients with motor neurone disease (3 with hexanucleotide expansion in C9ORF72), for tauopathy. 24861427 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 GeneticVariation disease BEFREE A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. 15883319 2005
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.070 Biomarker disease BEFREE Abnormal aggregates of tau protein characterize the brain lesions of FTDP-17 patients and ubiquitin inclusions have been found in FTD with motor neuron disease linked to chromosome 9. 14503643 2003