ArticleMovement disorders : official journal of the Movement Disorder Society2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Article in Movement disorders : official journal of the Movement Disorder Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 20 citations in OpenAlex.
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.BMC neurology · 2026Article
- Spastic Quadriplegia Resulting From a Pathogenic Variant in theCase reports in neurological medicine · 2026Article
- Deciphering Spastic Ataxia: Clinical and Genetic Profiles.Neurology. Genetics · 2025Article
- Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.Children (Basel, Switzerland) · 2025Article
- Article
- Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Brain : a journal of neurology · 2025Article
- The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.Neurology. Genetics · 2025Article
- Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).Movement disorders : official journal of the Movement Disorder Society · 2025Review
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- [Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2024Article
- NovelFrontiers in genetics · 2024Article
- Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- A novel missense mutation inMolecular medicine reports · 2023Article
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18 authors at 9 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype.
objectiveThe aim of this study was to delineate the genotypic and phenotypic spectrum of children with de novo HSP-SPAST.
methodsThis study used a systematic cross-sectional analysis of clinical and molecular features.
resultsWe report the clinical and molecular spectrum of 40 patients with heterozygous pathogenic de novo variants in SPAST (age range: 2.2-27.7 years). We identified 19 unique variants (16/40 carried the same recurrent variant, p.Arg499His). Symptom onset was in early childhood (median: 11.0 months, interquartile range: 6.0 months) with significant motor and speech delay, followed by progressive ascending spasticity, dystonia, neurogenic bladder dysfunction, gastrointestinal dysmotility, and epilepsy. The mean Spastic Paraplegia Rating Scale score was 32.8 ± 9.7 (standard deviation).
conclusionsThese results confirm that de novo variants in SPAST lead to a severe and complex form of HSP that differs from classic familial pure HSP-SPAST. Clinicians should be aware of this syndrome in the differential diagnosis for cerebral palsy. © 2022 International Parkinson and Movement Disorder Society.
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