ArticleTranslational neurodegeneration2019
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Article in Translational neurodegeneration, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 45 citations in OpenAlex.
- Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.CNS neuroscience & therapeutics · 2025Article
- Identification and Characterization of Genes Associated with Intestinal Ischemia-Reperfusion Injury and Oxidative Stress: A Bioinformatics and Experimental Approach Integrating High-Throughput Sequencing, Machine Learning, and Validation.Journal of inflammation research · 2025Article
- Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.Neurogenetics · 2024Article
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Neurogenetics · 2024Review
- Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.CNS neuroscience & therapeutics · 2024Article
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.Neurogenetics · 2023Review
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
- Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report.Frontiers in neurology · 2023Article
- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.Genomics & informatics · 2022Article
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
- Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.Molecular genetics & genomic medicine · 2021Article
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics · 2021Article
- Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.Brain sciences · 2021Article
- Novel Compound Missense and Intronic Splicing Mutation inFrontiers in neurology · 2021Article
- Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.Annals of clinical and translational neurology · 2020Article
- Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.PloS one · 2020Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients. Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population.
methodsIn this study, we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Further functional studies were performed to identify pathogenicity of those uncertain significance variants.
resultsWe identified 11 mutations in HSP related genes including 7 novel mutations, including two (p.V1979_L1980delinsX, p.F2343 fs) in
conclusionOur results expanded the genetic spectrum and clinical profiles of AR-HSP patients and further demonstrated the efficiency and reliability of targeted NGS diagnosing suspected HSP patients.
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