ArticleMolecular neurodegeneration2018
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Article in Molecular neurodegeneration, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 76 citations in OpenAlex.
- Vestibular rehabilitation in hereditary spastic paraplegia: a randomized pilot study.Arquivos de neuro-psiquiatria · 2026Trial
- Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report.Journal of medical case reports · 2026Article
- Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.Journal of neurology · 2026Article
- Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China.Frontiers in genetics · 2026Article
- Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.Annals of clinical and translational neurology · 2026Article
- DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.Nature metabolism · 2025Article
- Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.European journal of neurology · 2025Article
- Genotype-phenotype correlations in 18 European patients with heterozygousFrontiers in medicine · 2025Article
- Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.Frontiers in human neuroscience · 2025Article
- A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.Annals of clinical and translational neurology · 2024Article
- Article
- CYP7B1 deficiency impairs myeloid cell activation in autoimmune disease of the central nervous system.PNAS nexus · 2024Article
- Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Article
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.Neurogenetics · 2023Review
- Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.International journal of molecular sciences · 2023Review
- 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
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.Cells · 2022Article
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.BMC neurology · 2022Article
- Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report.Journal of medical case reports · 2022Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundHereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both the clinical and mutational spectrum of Chinese patients with HSP remained unclear. In this study, we aim to perform a comprehensive analysis of clinical phenotypes and genetic distributions in a large cohort of Chinese HSP patients, and to elucidate the primary pathogenesis in this population.
methodsWe firstly performed next-generation sequencing targeting 149 genes correlated with HSP in 99 index cases of our cohort. Multiplex ligation-dependent probe amplification testing was further carried out among those patients without known disease-causing gene mutations. We simultaneously performed a retrospective study on the reported patients exhibiting HSP in other Chinese cohorts. All clinical and molecular characterization from above two groups of Chinese HSP patients were analyzed and summarized. Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (SPG) patients (SPG4 and SPG11) in vitro.
resultsMost patients of ADHSP (94%) are pure forms, whereas most patients of ARHSP (78%) tend to be complicated forms. In ADHSP, we found that SPG4 (79%) was the most prevalent, followed by SPG3A (11%), SPG6 (4%) and SPG33 (2%). Subtle mutations were the common genetic cause for SPG4 patients and most of them located in AAA cassette domain of spastin protein. In ARHSP, the most common subtype was SPG11 (53%), followed by SPG5 (32%), SPG35 (6%) and SPG46 (3%). Moreover, haplotype analysis showed a unique haplotype was shared in 14 families carrying c.334C > T (p.R112
conclusionsOur study present a comprehensive clinical spectrum and genetic landscape for HSP in China. We have also provided additional evidences for mitochondrial and autolysosomal-mediated pathways in the pathogenesis of HSP.
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