ArticleNeurogenetics2026
Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report.
Article in Neurogenetics, 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
7 authors.
Funding
Abstract
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by pathogenic variants in the GCDH gene, typically presenting in infancy with dystonia following encephalopathic crisis. Late- and adult-onset forms are rare and may manifest with nonspecific neurological features. We describe a 43-year-old woman with levodopa-responsive parkinsonism and presynaptic dopaminergic dysfunction. Genetic analysis revealed compound heterozygous GCDH variants, consistent with GA1. One of the reported variants (c.1178G > A, p. Gly393Glu) is extremely rare and has never been associated with adult-diagnosed GA1 with atypical features. Furthermore, this is the first report of GA1 patient presenting with parkinsonism in whom we demonstrated presynaptic dopaminergic dysfunction, along with a favorable response to levodopa.
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.