ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. 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
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKufor-Rakeb syndrome (KRS), a autosomal recessive disease has phenotypic and genotypic variability.
objectiveDetailed description of the clinical, imaging, genetic profile of KRS and comparison of Indian cohort with Asian, Middle east and European cohort.
methodsReport of two patients of KRS and review of reported cases of KRS since 2006 from Indian, Asian, Middle east and European cohorts.
resultsThere were 9 cases in Indian cohort, 23 in Asian/Middle East and 37 in European cohort. Patients in the Indian cohorts had earlier age at presentation but age at onset of disease was similar in all cohorts. The median duration of disease was lower in the Indian cohort. Levodopa- responsive parkinsonism was commonest presentation in all cohorts. Dementia, myoclonus was less common in Indian cohort, dyskinesia, dystonia in Asian/ middle east cohort, and dystonia in the European cohort. Cerebral/cerebellar atrophy was noted in all cohorts (60.9%). Homozygous/compound heterozygous ATP13A2 gene variants were associated with the dementia-parkinsonism with dystonia, gaze palsy, myoclonus and heterozygous variants with early-onset levodopa responsive parkinsonism.
conclusionKRS presents as dementia-parkinsonism with dystonia, gaze palsy, myoclonus, psychiatric disturbances due to homozygous/compound heterozygous ATP13A2 gene variants or as early-onset levodopa responsive parkinsonism due to heterozygous variants. There exists phenotypic variability among the cohorts.
Indexed as
Identifiers
41493629What 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.