ArticleScientific reports2021
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 18 citations in OpenAlex.
- Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.Brain : a journal of neurology · 2026Article
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Article
- A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.Arquivos de neuro-psiquiatria · 2025Review
- Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.PloS one · 2025Article
- From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.European journal of neurology · 2025Article
- Identification of novel variations in three cases with rare inherited neuromuscular disorder.Experimental and therapeutic medicine · 2024Article
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.Neurogenetics · 2023Review
- Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias.Frontiers in neuroscience · 2023Article
- Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.Frontiers in neurology · 2023Article
- Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.Frontiers in genetics · 2023Article
- Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.Cold Spring Harbor molecular case studies · 2022Article
- Phosphorylation of Spastin Promotes the Surface Delivery and Synaptic Function of AMPA Receptors.Frontiers in cellular neuroscience · 2022Article
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset < 12 years-old) were reviewed from 2011 to 2020. One hundred and six individuals (83 families) with suspicion of childhood-onset HSP were evaluated, being 68 (50 families) with solved genetic diagnosis, 6 (5 families) with candidate variants in HSP-related genes and 32 (28 families) with unsolved genetic diagnosis. The most common childhood-onset subtype was SPG4, 11/50 (22%) families with solved genetic diagnosis; followed by SPG3A, 8/50 (16%). Missense pathogenic variants in SPAST were found in 54.5% of probands, favoring the association of this type of variant to childhood-onset SPG4. Survival curves to major handicap and cross-sectional Spastic Paraplegia Rating Scale progressions confirmed the slow neurological deterioration in SPG4 and SPG3A. Most common complicating features and twenty variants not previously described in HSP-related genes were reported. These results are fundamental to understand the molecular and clinical epidemiology of childhood-onset HSP, which might help on differential diagnosis, patient care and guiding future collaborative trials for these rare diseases.
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