ArticleJournal of neurology2015
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Pooled it
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Wings of Discovery: UsingCells · 2025Review
- Triglycerides are an important fuel reserve for synapse function in the brain.Nature metabolism · 2025Article
- Axon demyelination and degeneration in a zebrafishOpen biology · 2024Article
- Update on recent advances in amyotrophic lateral sclerosis.Journal of neurology · 2024Review
- Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Journal of human genetics · 2023Article
- The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.International journal of molecular sciences · 2022Review
- Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia.Acta neuropathologica communications · 2022Article
- Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022Review
- Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.Frontiers in neurology · 2022Article
- Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.Scientific reports · 2021Article
- Hereditary spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.Brain sciences · 2021Article
- Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant inBrain communications · 2021Article
- Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.International journal of molecular sciences · 2020Review
- Endosome-to-TGN Trafficking: Organelle-Vesicle and Organelle-Organelle Interactions.Frontiers in cell and developmental biology · 2020Review
- Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.Journal of neurology · 2019Article
- Update on the Genetics of Spastic Paraplegias.Current neurology and neuroscience reports · 2019Review
- Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.Frontiers in neuroscience · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an opportunity to identify genes, proteins and cellular pathways that are critical for axonal health. In this review, we will provide a brief overview of the classification, clinical features and genetics of HSP, highlighting selected HSP subtypes (i.e. those associated with thin corpus callosum or cerebellar ataxia) that are of particular clinical interest. We will then discuss appropriate investigation strategies for HSPs, suggesting how these might evolve with the introduction of next-generation sequencing technology. Finally, we will discuss the management of HSP, an area somewhat neglected by HSP research.
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.