Parkinson Disease and Complex Parkinsonism
Gene: GRN
Monoallelic mutations cause frontotemporal lobar degeneration with TDP43 inclusions. PMID: 20301545: The spectrum of frontotemporal dementia associated with GRN mutation includes the behavioral variant, primary progressive aphasia and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. Frontotemporal dementia associated with mutation of GRN (FTD-GRN) generally affects the frontal and temporal cortex leading to behavioral changes, executive dysfunction, and language disturbances. In FTD-GRN, the parietal cortex and basal ganglia may be affected as well, resulting in parkinsonism, cortical basal syndrome, and memory impairment - Baker et al 2006, Masellis et al 2006, Mukherjee et al 2006, Behrens et al 2007, Josephs et al 2007, Mesulam et al 2007, Spina et al 2007. Parkinsonism is part of the phenotypic spectrum of this disorder: PMID 17923627. Complex parkinsonism, but would confirm with the referring neurologist that the complex phenotype matches with ftdCreated: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
frontotemporal lobar degeneration with TDP43 inclusions; Complex parkinsonism
Publications
Comment on list classification: Confirmed with Arianna that this gene should be green.Created: 8 Dec 2016, 3:13 p.m.
Comment on list classification: This gene is green on the Early onset dementia (encompassing fronto-temporal dementia and prion disease) Version 1.2 gene panel, with clear evidence for Frontotemporal lobar degeneration with ubiquitin-positive inclusions. It is also an eligibility statement prior genetic testing gene for Complex Parkinsonism (includes pallido-pyramidal syndromes) however I am unsure whether ths should be included as green on this panel.Created: 3 Nov 2016, 12:55 p.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for GRN were set to clinical presentation suggestive of cortico-basal/PSP syndrome;frontotemporal lobar degeneration with TDP43 inclusions; Complex parkinsonism
Publications for GRN were set to 20301545; 17923627
This gene has been classified as Green List (High Evidence).
Phenotypes for GRN were set to clinical presentation suggestive of cortico-basal/PSP syndrome
This gene has been classified as Amber List (Moderate Evidence).
GRN was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert,Eligibility statement prior genetic testing
GRN was created by ellenmcdonagh