Parkinson Disease and Complex Parkinsonism
Gene: MAPTPMID: 28334843 - new publication providing further evidence. Autophagy-upregulating therapies may be a strategy for the treatment for tauopathies.Created: 14 Aug 2017, 3:23 p.m.
Comment on list classification: Multiple families/cases reported in OMIM for Dementia, frontotemporal, with parkinsonism for different variants. Also green on the Early onset dementia (encompassing fronto-temporal dementia and prion disease) version 1.2 panel.Created: 2 Nov 2016, 1:26 p.m.
Comment on list classification: Is on the Dementia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, and consideration of testing for this gene is suggested in the case of familial or unusual syndromes, which may include earlier age of onset: "Complicated parkinsonism such as MSA and PSP generally do not appear to have a high recurrence risk. However, in the case of familial or unusual syndromes, which may include earlier age of onset, consideration to sequence the MAPT gene is suggested. In MSA approximately 10% of patients have a spinocerebellar ataxia (SCA) expansion."Created: 10 Jun 2016, 10:45 a.m.
Phenotypes
28334843
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
complex neurodegenerative disorder: mainly frontotemporal dementia, but also progressive supranuclear palsy, corticobasal degeneration, parkinsonism
Publications
Publications for MAPT were set to 28334843;20301678
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
MAPT was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Eligibility statement prior genetic testing
MAPT was created by ellenmcdonagh
MAPT was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert,UKGTN