Parkinson Disease and Complex Parkinsonism
Gene: CSF1RComment on phenotypes: Previous phenotypes: 'diffuse leukoencephalopathy with spheroids, dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy'Created: 2 Nov 2021, 12:13 p.m. | Last Modified: 2 Nov 2021, 12:13 p.m.
Panel Version: 1.71
Monoallelic mutations cause diffuse leukoencephalopathy with spheroids. This is a progressive complex neurodegenerative disorder characterized by variable behavioural (depression), cognitive (dementia), and motor changes. The most frequent feature is dementia, followed by motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy. PMID: 23787135 describes concurrent parkinsonism in CSF1R pts. Can cause complex parkinsonism, but brain MRI would be needed to confirm a potential pathogenic mutationCreated: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
diffuse leukoencephalopathy with spheroids
Publications
Comment on list classification: Promoted to green after internal discussion to confirm this should be green.Created: 14 Dec 2016, 5:41 p.m.
Comment on list classification: Is green on the Early onset dementia (encompassing fronto-temporal dementia and prion disease) Version 1.2 and Inherited white matter disorders Version 1.0 panels, clear evidence for link to Leukoencephalopathy, diffuse hereditary, with spheroids, with reports of parkinsonism in some patients. Unsure whether this should be included on this panel.Created: 3 Nov 2016, 10:38 a.m.
"CSFR1" was submitted on the expert list. CSF1R is the likely HGNC-approved symbol for this genes.Created: 24 Jul 2015, 12:21 p.m.
Phenotypes for gene: CSF1R were changed from diffuse leukoencephalopathy with spheroids; dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for CSF1R were set to diffuse leukoencephalopathy with spheroids;dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy
Phenotypes for CSF1R were set to diffuse leukoencephalopathy with spheroids
Publications for CSF1R were set to 23787135
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CSF1R was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
CSF1R was created by ellenmcdonagh