ArticleEuropean journal of human genetics : EJHG2014
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.Annals of Indian Academy of Neurology · 2025Article
- Role of glial cells in motor neuron degeneration in hereditary spastic paraplegias.Frontiers in cellular neuroscience · 2025Review
- Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.Journal of neurology · 2024Article
- Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Identification and analyses of exonic and copy number variants in spastic paraplegia.Scientific reports · 2024Article
- RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.American journal of human genetics · 2023Article
- Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.Human genetics · 2023Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Expansion of the genetic landscape of ERLIN2-related disorders.Annals of clinical and translational neurology · 2020Article
- SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.Journal of human genetics · 2019Article
- Structural Insights into the Mechanism of Dynamin Superfamily Proteins.Trends in cell biology · 2019Review
- Update on the Genetics of Spastic Paraplegias.Current neurology and neuroscience reports · 2019Review
- A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.The Journal of biological chemistry · 2018Article
- Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.Frontiers in neurology · 2018Review
- Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.BMC medical genetics · 2017Article
- A study of the Bodrogköz population in north-eastern Hungary by Y chromosomal haplotypes and haplogroups.Molecular genetics and genomics : MGG · 2017Article
- A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.European journal of human genetics : EJHG · 2017Article
- Clinical features and genotype-phenotype correlation analysis in patients withTranslational neurodegeneration · 2017Article
- Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Journal of human genetics · 2016Article
- Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.BMC medical genetics · 2016Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and 'pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP. The pedigree was compatible with both autosomal dominant and autosomal recessive inheritance. Whole-exome sequencing and segregation analysis revealed a homozygous novel missense variant c.353G>A, p.(Arg118Gln) in ATL1 in all six affected family members. Seven heterozygous carriers, five females and two males, showed no clinical signs of HSP with the exception of sub-clinically reduced vibration sensation in one adult female. Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of HSP, whereas heterozygous carriers are asymptomatic. This apparent autosomal recessive inheritance adds to the clinical complexity of spastic paraplegia 3A and calls for caution using directed genetic screening in HSP.
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