ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2013
Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Article
- The First Large Deletion ofBiomedicines · 2023Article
- Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.Neurogenetics · 2019Article
- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Journal of molecular medicine (Berlin, Germany) · 2018Article
- The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Neurogenetics · 2018Article
- Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Brain : a journal of neurology · 2018Article
- Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.Frontiers in neurology · 2018Article
- Clinical features and genotype-phenotype correlation analysis in patients withTranslational neurodegeneration · 2017Article
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.Journal of human genetics · 2016Article
- Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Journal of neurology · 2015Article
- Copy number variations in a population-based study of Charcot-Marie-Tooth disease.BioMed research international · 2015Article
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.American journal of human genetics · 2014Article
- Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.Journal of clinical neurology (Seoul, Korea) · 2014Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplaegias are a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. The most common forms of hereditary spastic paraplaegia are SPG4 and SPG3A caused by sequence variants in the SPAST and ATL1 genes, as well as by deletions and duplications not detected by standard techniques. In this study, we used the multiplex ligation-dependent probe amplification (MLPA) analysis for screening 93 patients (52 familial and 41 isolated cases). As a result, we identified 11 different deletions and 1 duplication in the SPAST gene and a single exon deletion in the ATL1 gene. These results indicate that micro-rearrangements in the SPAST gene are a fairly frequent cause of hereditary spastic paraplaegia and that MLPA is a useful and efficient technique to detect a considerable proportion of the mutations in the most common forms of hereditary spastic paraplaegias.
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