ArticleNeurogenetics2004
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Article in Neurogenetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.Journal of inherited metabolic disease · 2018Review
- Clinical features and genotype-phenotype correlation analysis in patients withTranslational neurodegeneration · 2017Article
- A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.Journal of neurology · 2016Article
- Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Journal of neurology · 2015Article
- ER network formation and membrane fusion by atlastin1/SPG3A disease variants.Molecular biology of the cell · 2015Article
- ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.Journal of neurology · 2013Article
- Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.Molecular and cellular neurosciences · 2013Article
- The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.Molecular and cellular neurosciences · 2011Article
- Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.BMC neurology · 2010Article
- Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.Human molecular genetics · 2008Article
- Recent advances in the genetics of spastic paraplegias.Current neurology and neuroscience reports · 2008Review
- A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.Journal of neurology · 2007Article
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. The major features of HSP are a marked phenotypic variability both among and within families and an extended genetic heterogeneity. More than 20 HSP loci and 10 spastic paraplegia genes (SPG) have been identified to date, including the genes responsible for the two most frequent forms of autosomal dominant spastic paraplegia (AD-HSP), encoding spastin (SPG4) and atlastin (SPG3A), respectively. To date, only eight mutations have been described in the atlastin gene, which was reported to account for about 10% of all AD-HSP families. We investigated 15 German and French AD-HSP families, including the 3 large pedigrees that allowed the mapping and subsequent refinement of the SPG3A locus. Three novel mutations were found in exons 4, 9, and 12 of the atlastin gene and the common R239C mutation located in exon 7 was confirmed in a 7th family of European origin. Overall, the comparison of the clinical data for all SPG3A-HSP families reported to date failed to reveal any genotype/phenotype correlation as demonstrated for other forms of AD-HSP. However, it confirmed the early onset of this form of HSP, which was observed in almost all affected individuals with a mutation in the atlastin gene.
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