ArticleCerebellum (London, England)2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Article in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- Short-read genome sequencing at population scale: diagnostic insights from 2317 patients.European journal of human genetics : EJHG · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- Article
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.Neurogenetics · 2024Article
- Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.Journal of medical genetics · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- 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
- Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.American journal of medical genetics. Part A · 2022Article
- Clinical and Genetic Features of Chinese Patients WithFrontiers in genetics · 2022Article
- Milestones in genetics of cerebellar ataxias.Neurogenetics · 2021Review
- A Case ofJournal of clinical neurology (Seoul, Korea) · 2021Article
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics · 2021Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- A NovelFrontiers in genetics · 2021Article
- Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.Annals of clinical and translational neurology · 2020Article
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
Inherited disorders of spasticity or ataxia exist on a spectrum with overlapping causative genes and phenotypes. We investigated the use of whole-genome sequencing (WGS) to detect a genetic cause when considering this spectrum of disorders as a single group. We recruited 18 Korean individuals with spastic paraplegia with or without cerebellar ataxia in whom common causes of hereditary cerebellar ataxia and hereditary spastic paraplegia had been excluded. We performed WGS with analysis for single nucleotide variants, small insertions and deletions, copy number variants (CNVs), structural variants (SVs) and intronic variants. Disease-relevant variants were identified in ABCD1 (n = 3), CAPN1 (n = 2), NIPA1 (n = 1) and PLA2G6 (n = 1) for 7/18 patients (38.9%). A 'reverse phenotyping' approach was used to clarify the diagnosis in individuals with PLA2G6 and ABCD1 variants. One of the ABCD1 disease-relevant variants was detected on analysis for intronic variants. No CNV or SV causes were found. The two males with ABCD1 variants were initiated on monitoring for adrenal dysfunction. This is one of only a few studies to analyse spastic-ataxias as a continuous spectrum using a single approach. The outcome was improved diagnosis of unresolved cases for which common genetic causes had been excluded. This includes the detection of ABCD1 variants which had management implications. Therefore, WGS may be particularly relevant to diagnosing spastic ataxias given the large number of genes associated with this condition and the relatively high diagnostic yield.
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