ArticlePloS one2015
Multimodal MRI-based study in patients with SPG4 mutations.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- The Intersection of Genetics and Neuroimaging: A Systematic Review of Imaging Genetics in Neurological Disease for Personalized Treatment.Journal of molecular neuroscience : MN · 2025Pooled it
- An MRI-based radiomics model for precision subtyping of hereditary spastic paraplegia: discriminating SPG4 from SPG5.Neuroradiology · 2026Article
- Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.BMC neurology · 2026Article
- Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.Journal of neurology · 2025Article
- Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.Journal of neurology · 2025Article
- Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.Biomedicines · 2025Review
- Review
- Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.European journal of neurology · 2024Article
- Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.Genes · 2023Article
- Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia.Journal of neuroengineering and rehabilitation · 2023Article
- Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).Scientific reports · 2022Article
- Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.Journal of neurology · 2022Article
- Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.Annals of clinical and translational neurology · 2022Article
- White Matter Alterations in Spastic Paraplegia Type 5: A Multiparametric Structural MRI Study and Correlations with Biochemical Measurements.AJNR. American journal of neuroradiology · 2022Article
- Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.Journal of neurology · 2021Article
- Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery.Brain sciences · 2021Review
- Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study.PloS one · 2021Article
- Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging.Frontiers in neurology · 2021Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known. Therefore, our objective is to identify regions of the central nervous system damaged in patients with SPG4-HSP using a multi-modal neuroimaging approach. In addition, we aimed to identify possible clinical correlates of such damage. Eleven patients (mean age 46.0 ± 15.0 years, 8 men) with molecular confirmation of hereditary spastic paraplegia, and 23 matched healthy controls (mean age 51.4 ± 14.1years, 17 men) underwent MRI scans in a 3T scanner. We used 3D T1 images to perform volumetric measurements of the brain and spinal cord. We then performed tract-based spatial statistics and tractography analyses of diffusion tensor images to assess microstructural integrity of white matter tracts. Disease severity was quantified with the Spastic Paraplegia Rating Scale. Correlations were then carried out between MRI metrics and clinical data. Volumetric analyses did not identify macroscopic abnormalities in the brain of hereditary spastic paraplegia patients. In contrast, we found extensive fractional anisotropy reduction in the corticospinal tracts, cingulate gyri and splenium of the corpus callosum. Spinal cord morphometry identified atrophy without flattening in the group of patients with hereditary spastic paraplegia. Fractional anisotropy of the corpus callosum and pyramidal tracts did correlate with disease severity. Hereditary spastic paraplegia is characterized by relative sparing of the cortical mantle and remarkable damage to the distal portions of the corticospinal tracts, extending into the spinal cord.
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Registered trials
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