ArticleMolecular genetics and metabolism2012
Neurotransmitter abnormalities and response to supplementation in SPG11.
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed.
- Hereditary spastic paraplegia (HSP) gene 11 (Spg11) attenuates lipid accumulation in myeloid cells and neuroinflammation in the midbrain without affecting α-synuclein pathology.Journal of neuroinflammation · 2026Article
- Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026Review
- Article
- Exome sequencing in paediatric patients with movement disorders.Orphanet journal of rare diseases · 2021Article
- Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.Brain : a journal of neurology · 2020Review
- Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction.Internal medicine (Tokyo, Japan) · 2019Article
- Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.Frontiers in neurology · 2019Article
- Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond.Advances in genetics · 2017Review
- Genetic Leukoencephalopathies in Adults.Continuum (Minneapolis, Minn.) · 2016Review
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
- Article
- Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.The Journal of clinical investigation · 2014Article
- Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.Annals of clinical and translational neurology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
objectiveTo report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin.
designCase reports.
settingNational Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. PATIENTS: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy.
interventionsL-Dopa/carbidopa and sapropterin.
results3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to L-dopa as well as sapropterin.
conclusionsIn the SPG11 patient with extrapyramidal symptoms, a trial of L-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.
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.