ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025
CSF1R-related disorder: A clinical, imaging and genetic profile review.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundColony-stimulating factor 1 receptor (CSF1R) -related disorder (CSF1R-RD) is a primary microgliopathy with a distinct clinical, imaging and genetic profile.
objectiveDescription of the clinical, imaging and genetic profile of CSF1R-RD and comparison of Indian cohort with Asian, European and American cohort.
methodsReport of 2 cases of CSF1R-RD and review of reported cases of genetically confirmed CSF1R-RD since 2012 from Indian, Asian, European and American cohorts.
resultsTwo patients were females with age at onset at 40 and 42 years. The duration of symptoms was 2 and 5 years. Both had spasticity, cognitive impairment and psychiatric disturbances. Brain imaging showed hyperintensities in the cerebral white mater involving deep and periventricular white mater with diffusion restriction in one patient. There was diffuse cerebral and corpus callosum atrophy. Genetics showed heterozygous missense variants in exon 18 of the CSF1R gene in both patients. The Indian cohort of 5 patients had additional symptoms of dysarthria, dysphagia, parkinsonism, tremor and gait abnormality, similar radiological features. The Asian, European and American cohort had similar clinical and radiological features. Seizures were more commonly reported in America cohort and presence of calcification was less common imaging abnormality in all cohorts. Genetic profiling showed heterozygous predominantly missense variants in the TKD in all cohorts.
conclusionCSF1R-RD has distinct clinical profile of cognitive impairment, spasticity, psychiatric disturbances with dysarthria, dysphagia, parkinsonism, tremor, ataxia, seizures, aphasia and gait abnormality. Calcification is less common radiological abnormality with heterozygous missense variants in the TKD as the common genetic variant.
Indexed as
Identifiers
40146342What 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.