ArticleJournal of medical genetics1998
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 71 citations in OpenAlex.
- Truncating mutations inJournal of neurology, neurosurgery, and psychiatry · 2017Article
- The coexistence of multiple sclerosis and hereditary spastic paraparesis in a patient.Neurology international · 2013Article
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.European journal of human genetics : EJHG · 2012Article
- Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.American journal of human genetics · 2008Article
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
- A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.Neurogenetics · 2005Article
- Basic genetics for the clinical neurologist.Journal of neurology, neurosurgery, and psychiatry · 2002Review
- Hereditary spastic paraparesis: a review of new developments.Journal of neurology, neurosurgery, and psychiatry · 2000Review
- A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.American journal of human genetics · 1999Article
- A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in theCase reports in neurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.