ArticleAnnals of Indian Academy of Neurology2025
Movement Disorders in CSF1R -Related Leukoencephalopathy: A Case Series.
Article in Annals of Indian Academy of Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
abstractCSF1R -related leukoencephalopathy is a rare, dominantly inherited leukoencephalopathy caused by mutations in the CSF1R gene that codes for colony-stimulating factor 1 receptor. We describe the clinical and neuroimaging features in three genetically confirmed cases (two women) of CSF1R -related leukoencephalopathy. The age at onset ranged from 41 to 45 years. Cognitive and behavioral disturbances were seen in all patients, and one patient had epilepsy. The movement disorders included parkinsonism, freezing of gait, cerebellar ataxia, tremors, etc., Pyramidal signs were noted in two patients. Magnetic resonance imaging of the brain showed signal changes in the white matter. Whole-exome sequencing revealed mutation in the CSF1R gene, confirming the diagnosis. A combination of rapidly progressive cognitive and behavioral disturbances with involvement of pyramidal, extrapyramidal, and characteristic neuroimaging suggests diagnosis. Currently, the treatment is symptomatic as there is no specific treatment for the disease and a multidisciplinary team is required for managing these patients. Hematopoietic stem cell transplantation has shown to benefit a few patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.