ArticleNeurogenetics2009
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Article in Neurogenetics, 2009. 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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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review.Frontiers in neurology · 2019Pooled it
- Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Brain : a journal of neurology · 2017Trial
- Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis.Liver research (Beijing, China) · 2020Article
- Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Molecular neurodegeneration · 2018Article
- 27-Hydroxycholesterol Is an Estrogen Receptor β-Selective Negative Allosteric Modifier of 17β-Estradiol Binding.Endocrinology · 2018Article
- Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.World journal of gastroenterology · 2017Article
- Re-adopting classical nuclear receptors by cholesterol metabolites.The Journal of steroid biochemistry and molecular biology · 2016Review
- The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.Orphanet journal of rare diseases · 2015Article
- Cytochromes p450: roles in diseases.The Journal of biological chemistry · 2013Review
- Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanism.The Journal of biological chemistry · 2011Article
- Disorders of bile acid synthesis.Journal of inherited metabolic disease · 2011Review
- A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).European journal of human genetics : EJHG · 2010Article
- Genetic connections between neurological disorders and cholesterol metabolism.Journal of lipid research · 2010Article
- Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.Journal of lipid research · 2010Article
- CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.The Journal of biological chemistry · 2009Review
- The interaction between metabolism, cancer and cardiovascular disease, connected by 27-hydroxycholesterol.Clinical lipidologyArticle
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegia (HSP) is a neurodegenerative condition defined clinically by lower limb spasticity and weakness. Homozygous mutations in CYP7B1 have been identified in several consanguineous families that represented HSP type 5 (SPG5), one of the many genetic forms of the disease. We used direct sequencing and multiplex ligation-dependent probe amplification to screen for CYP7B1 alterations in apparently sporadic HSP patients (n = 12) as well as index patients from non-consanguineous families with recessive (n = 8) and dominant (n = 8) transmission of HSP. One sporadic patient showing HSP as well as optic atrophy carried a homozygous nonsense mutation. Compound heterozygosity was observed in a recessive family with a clinically pure phenotype. A heterozygous missense change segregated in a small dominant family. We also found a significant association of a known coding polymorphism with cerebellar signs complicating a primary HSP phenotype. Our findings suggest CYP7B1 alterations to represent a rather frequent cause of HSP that should be considered in patients with various clinical presentations.
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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.