ArticleNeurology2008
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Article in Neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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33 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 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
- Protein and mRNA Expression in Uveal Melanoma Cell Lines Are Related to GNA and BAP1 Mutation Status.Investigative ophthalmology & visual science · 2024Article
- Identification and analyses of exonic and copy number variants in spastic paraplegia.Scientific reports · 2024Article
- Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.Molecular genetics and genomics : MGG · 2024Article
- Syringomyelia: A New Phenotype ofBrain & NeuroRehabilitation · 2023Article
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
- Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum.Frontiers in integrative neuroscience · 2023Article
- Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.Molecular genetics & genomic medicine · 2020Article
- Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.Journal of molecular neuroscience : MN · 2020Article
- Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.International journal of molecular sciences · 2020Article
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.BMC neurology · 2020Article
- Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.Clinical neuroradiology · 2019Article
- Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis.Communications biology · 2019Article
- Severe axonal neuropathy is a late manifestation of SPG11.Journal of neurology · 2016Article
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia.Brain : a journal of neurology · 2016Article
- A case report of SPG11 mutations in a Chinese ARHSP-TCC family.BMC neurology · 2016Article
- Genotype-phenotype correlations of amyotrophic lateral sclerosis.Translational neurodegeneration · 2016Review
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.Human genetics · 2015Review
- Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices.AJNR. American journal of neuroradiology · 2014Article
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5 authors at 1 institution in 1 country.
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Abstract
backgroundAutosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases.
methodsWe present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum.
resultsWe identified seven mutations, including deletions, insertions, and nonsense mutations, which were all predicted to lead to premature truncation of the protein.
conclusionWe conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia.
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