ArticleNeurogenetics2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Article in Neurogenetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00140829 (Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias), which is not on this map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias
Who cites it
14 citing papers in PubMed, 45 citations in OpenAlex.
- Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.Molecular genetics & genomic medicine · 2024Article
- 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
- Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.Clinical neuroradiology · 2019Article
- Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.Internal medicine (Tokyo, Japan) · 2018Article
- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Journal of molecular medicine (Berlin, Germany) · 2018Article
- Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.Neurobiology of disease · 2017Article
- Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.European journal of human genetics : EJHG · 2016Article
- Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.Neurogenetics · 2010Article
- SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.Journal of neurology · 2009Article
- Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).European journal of neurology · 2008Article
- Recent advances in the genetics of spastic paraplegias.Current neurology and neuroscience reports · 2008Review
- SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Neurology · 2008Article
- SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.Neurogenetics · 2007Article
- Hereditary spastic paraplegia with a thin corpus callosum.Pediatric radiology · 2007Article
Corrections and comments
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Authors and funding
39 authors at 20 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.