Parkinson Disease and Complex Parkinsonism

Gene: MAPT

PMID: 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

Green List (high evidence)

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

• 20301678