ArticleJournal of molecular medicine (Berlin, Germany)2018
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Article in Journal of molecular medicine (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Journal of neurology · 2022Pooled it
- Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China.Frontiers in genetics · 2026Article
- Novel compound heterozygous variants in KIF1A non-motor domain of recessive hereditary spastic paraplegia type 30: a case with 65-year disease history.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- 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
- Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Review
- A novel variant ofAnnals of translational medicine · 2022Article
- Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.Frontiers in neurology · 2022Article
- Clinical and Genetic Features of Chinese Patients WithFrontiers in genetics · 2022Article
- The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.Molecular genetics & genomic medicine · 2021Article
- Genotype and defects in microtubule-based motility correlate with clinical severity inHGG advances · 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
- KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.BMC neurology · 2020Article
- New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.CNS neuroscience & therapeutics · 2020Article
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.Scientific reports · 2019Article
- VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.Neurogenetics · 2019Article
- NovelWorld journal of clinical cases · 2019Article
- Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.Translational neurodegeneration · 2019Article
- Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.Frontiers in neurology · 2018Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative diseases characterized by progressive weakness and spasticity of lower limbs. To clarify the genetic spectrum and improve the diagnosis of HSP patients, targeted next-generation sequencing (NGS) was applied to detect the culprit genes in 55 Chinese HSP pedigrees. The classification of novel variants was based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Patients remaining negative following targeted NGS were further screened for gross deletions/duplications by multiplex ligation-dependent probe amplification (MLPA). We made a genetic diagnosis in 61.8% (34/55) of families and identified 33 mutations, including 14 known mutations and 19 novel mutations. Of them, one was de novo mutation (NIPA1: c.316G>A). SPAST mutations (22/39, 56.4%) are the most common in Chinese AD-HSP followed by ATL1 (4/39, 10.3%). Moreover, we identified the third BSCL2 mutation (c.1309G>C) related to HSP by further functional studies and first reported the KIF1A mutation (c.304G>A) in China. Our findings broaden the genetic spectrum of HSP and improve the diagnosis of HSP patients. These results demonstrate the efficiency of targeted NGS to make a more rapid and precise diagnosis in patients with clinically suspected HSP. KEY MESSAGES: We made a genetic diagnosis in 61.8% of families and identified 33 mutations. SPAST mutations are the most common in Chinese AD-HSP followed by ATL1. Our findings broaden the genetic spectrum and improve the diagnosis of HSP.
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