Objective: We aimed to describe the clinical, radiological and genetic profile of patients with CSF1R- related leukoencephalopathy.

Background: CSF1R- related leukoencephalopathy is a rare dominantly inherited leukoencephalopathy caused by mutations in the CSF1R gene. It is characterised by neuropsychiatric and motor symptoms. Motor symptoms include parkinsonism, spasticity, hyperreflexia, dysarthria, dysphagia and ataxia. Some patients may develop aphasia, apraxia and seizures. Here we describe four cases of CSF1R related leukoencephalopathy.

Method: Our study was a retrospective chart review. Of 4 patients with CSF1R-related leukoencephalopathy (2 genetically confirmed). Detailed demographic, clinical and genetic details of these patients were retrieved from the medical case records.

Results: There were 3 females and 1 male patients with mean age at onset being 40 years and median disease duration of 3 years. Behavioral disturbances and cognitive decline were the initial symptoms in three patients and seizure in one patient. Cognitive symptoms were mainly memory impairment. Family history of neuropsychiatric symptoms was noted in 2 patients. Only three patients were on medications at the time of assessment. On examination, median MMSE score was 17. Parkinsonism features were seen in 2 patients, dystonia in 1, apraxia in 1, ataxia and intentional tremor in 1, up gaze restriction in 1 and hyperreflexia in 1 patient. MRI brain showed T2 FLAIR white matter hyperintensities in various areas such as bilateral frontal lobe, corpus callosum, periventricular and subcortical white matter, basal ganglia, internal capsule and caudate nucleus. Exome sequencing was done in two patients, that showed heterozygous mutation in CSF1R gene. Two unique pathogenic variants were identified in exon 14 [c.1954G>C (p. Ala652pro)] and exon 19 [c.2509G>A (p. Asp837Asn)].

Conclusion: A strong clinical suspicion with a characteristic MRI and CT findings will suggest the diagnosis. Combination of cognitive and behavioural disturbances with involvement of the pyramidal, extrapyramidal and cerebellar system is commonly seen in these patients. Genetic testing with mutation in the CSF1R gene confirms the diagnosis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinico-radiological-profile-of-four-patients-with-csf1r-related-leukoencephalopathy-a-case-series-from-india/