ArticleJournal of neurology2015
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.
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 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
- Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.BMC neurology · 2026Article
- Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.Journal of neurology · 2025Article
- Spinal cord cross sign: a potential marker for hereditary spastic paraplegia type 5.Neuroradiology · 2025Observational
- Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.Biomedicines · 2025Review
- Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.Brain communications · 2025Article
- Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.European journal of neurology · 2024Article
- Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.Frontiers in neuroscience · 2024Article
- Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia.Journal of neuroengineering and rehabilitation · 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
- Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.European radiology · 2022Article
- Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.Neural regeneration research · 2022Review
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.Cells · 2022Article
- Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.Neurology. Genetics · 2022Article
- A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.Movement disorders : official journal of the Movement Disorder Society · 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
- Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging.Frontiers in neurology · 2021Review
- Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).Journal of neurology · 2020Article
- Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a NovelFrontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. We used advanced neuroimaging to identify brain regions involved in SPG4, the most common HSP genotype. Additionally, we analyzed correlations between imaging and clinical findings. We performed 3T MRI scans including isotropic high-resolution 3D T1, T2-FLAIR, and DTI sequences in 15 adult patients with genetically confirmed SPG4 and 15 age- and sex-matched healthy controls. Brain volume loss of gray and white matter was evaluated through voxel-based morphometry (VBM) for supra- and infratentorial regions separately. DTI maps of axial diffusivity (AD), radial diffusivity (RD), mean diffusivity (MD), fractional anisotropy (FA), and measured anisotropy (MA1) were analyzed through tract-based special statistics (TBSS). VBM and TBSS revealed a widespread affection of gray and white matter in SPG4 including the corpus callosum, medio-dorsal thalamus, parieto-occipital regions, upper brainstem, cerebellum, and corticospinal tract. Significant correlations with correlation coefficients r > 0.6 between clinical data and DTI findings could be demonstrated for disease duration and disease severity as assessed by the spastic paraplegia rating scale for the pontine crossing tract (AD) and the corpus callosum (RD and FA). Imaging also provided evidence that SPG4 underlies a primarily axonal rather than demyelinating damage in accordance with post-mortem data. DTI is an attractive tool to assess subclinical affection in SPG4. The correlation of imaging findings with disease duration and severity suggests AD, RD, and FA as potential progression markers in interventional studies.
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