ArticleNeurology. Genetics2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed.
- Fluorogenic Tissue-Based Assessment of Acid Ceramidase Activity.Bio-protocol · 2026Article
- Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PME.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Meeting report: 2025 muscular dystrophy association summit on 'safety and challenges in gene therapy of neuromuscular diseases'.Journal of neuromuscular diseases · 2026Article
- Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.Annals of Indian Academy of Neurology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive Methods: We identified 9 patients with SMA-PME from 5 different families followed in neurology, rehabilitation, and genetics departments of university hospitals in France and the United States. During disease progression, motor functional scores were assessed for seven of them and C26-ceramide quantification on dried blood spots (DBSs) was performed for 4 of them. An Results: Twelve years after the molecular characterization of SMA-PME, here we present the detailed history of 9 patients from 5 different families with 4 new Discussion: This study presents the detailed natural history of SMA-PME. Given the rarity of this disease and the current lack of a reliable biomarker for patient follow-up, this work may serve as a retrospective control group for future therapeutic trials.
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.