ArticleEuropean journal of neurology2008
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
Article in European journal of neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 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
- Movement disorders in hereditary spastic paraplegias.Arquivos de neuro-psiquiatria · 2023Review
- Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.Brain : a journal of neurology · 2020Review
- Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Molecular neurodegeneration · 2018Article
- Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.Frontiers in neuroscience · 2018Article
- 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
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.Applied & translational genomics · 2015Article
- Article
- Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.Journal of neurology · 2012Article
- Neurotransmitter abnormalities and response to supplementation in SPG11.Molecular genetics and metabolism · 2012Article
- The genetics and neuropathology of Parkinson's disease.Acta neuropathologica · 2012Review
- A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.Neurogenetics · 2010Article
- Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.European journal of medical geneticsArticle
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
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Abstract
backgroundAutosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13-q15, were shown to cause the majority of SPG11 cases.
methodsWe analysed the 40 coding exons of this gene in the probands from eight families with complex ARHSP, four of these families had a thin corpus callosum and two has mild thinning.
resultsThree families were identified with novel mutations in the SPG11 gene. One family was of Asian origin with a homozygous nonsense mutation and had a very severe phenotype but only very mild thinning of the corpus callosum. In the other two English families the parents were unrelated and the mutations were compound heterozygotes. In these two families the phenotype was mild and both probands had a thin corpus callosum.
conclusionGiven the probable mechanism of action of the mutations in the Spatacsin gene, we discuss the probable genotype phenotype correlations in these families. This study confirms the frequent occurrence of Spatacsin mutations in complex ARHSP with genotype phenotype effects and exposes the spectrum of clinical heterogeneity in SPG11.
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