ReviewCurrent neurology and neuroscience reports2021
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.
Review in Current neurology and neuroscience reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Progressive Spastic Paraparesis Caused by Thoracic Spinal Epidural Lipomatosis: A Case Report and Systematic Review.Medical sciences (Basel, Switzerland) · 2026Pooled it
- Review
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Neurogenetics · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- The Neuro-Ophthalmologic Manifestations ofJournal of personalized medicine · 2025Review
- The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.Orphanet journal of rare diseases · 2025Article
- Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.Annals of clinical and translational neurology · 2025Article
- The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.Neurology. Genetics · 2025Article
- ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).Neurogenetics · 2025Article
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.Neurogenetics · 2024Article
- Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.BMC neurology · 2024Article
- Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Journal of human genetics · 2023Article
- Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.Genes · 2023Article
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.Neurogenetics · 2023Review
- The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.Brain : a journal of neurology · 2023Article
- Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.Biomedicines · 2023Article
- Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.Frontiers in genetics · 2023Article
- Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2023Review
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThe hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP. RECENT
findingsThere is a large and rapidly expanding list of genes implicated in HSP, making it difficult to keep gene testing panels updated. There is also a high degree of phenotypic overlap between HSP and other disorders, leading to problems in choosing the right panel to analyse. We discuss genetic testing strategies for overcoming these diagnostic hurdles, including the use of targeted sequencing gene panels, whole-exome sequencing and whole-genome sequencing. Personalised treatments for HSP are on the horizon, and a genetic diagnosis may hold the key to access these treatments. Developing strategies to overcome the challenges and controversies in HSP may hold the key to a rapid and accurate genetic diagnosis.
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What Socratic 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 Socratic graph.