Parkinson Disease and Complex Parkinsonism

Gene: CSF1R

Comment 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

Green List (high evidence)

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 mutation

Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
diffuse leukoencephalopathy with spheroids

Publications

• 23787135

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.