ArticleEuropean journal of human genetics : EJHG2012
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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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.
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Who cites it
32 citing papers in PubMed, 58 citations in OpenAlex.
- Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.American journal of human genetics · 2026Article
- Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.CNS neuroscience & therapeutics · 2025Review
- Article
- Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.International journal of molecular sciences · 2023Review
- A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.Experimental & molecular medicine · 2021Article
- Hereditary spastic paraplegia type 35 in a family from Mali.American journal of medical genetics. Part A · 2019Article
- Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.Neurogenetics · 2018Review
- Disorders of metal metabolism.Translational science of rare diseases · 2017Review
- Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.BMC medical genetics · 2017Article
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase.The Journal of biological chemistry · 2015Article
- Cerebral Iron Accumulation Is Not a Major Feature ofMovement disorders clinical practice · 2015Article
- Neurodegeneration with brain iron accumulation: diagnosis and management.Journal of movement disorders · 2015Review
- Human genetic disorders of sphingolipid biosynthesis.Journal of inherited metabolic disease · 2015Review
- Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.Clinical genetics · 2014Article
- Article
- 2'-Hydroxy ceramide in membrane homeostasis and cell signaling.Advances in biological regulation · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All previously described families with this disorder were consanguineous, with homozygous mutations in the probands. We describe a 10-year-old male, from a non-consanguineous family, with progressive spastic paraplegia, dystonia, ataxia, and cognitive decline associated with a sural axonal neuropathy. The use of high-throughput sequencing techniques combined with SNP array analyses revealed a novel paternally derived missense mutation and an overlapping novel maternally derived ~28-kb genomic deletion in FA2H. This patient provides further insight into the consistent features of this disorder and expands our understanding of its phenotypic presentation. The presence of a sural nerve axonal neuropathy had not been previously associated with this disorder and so may extend the phenotype.
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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.