ArticlePloS one2014
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).Frontiers in neurology · 2023Pooled it
- Dilated Cardiomyopathy in a Woman With SPG4-Associated Hereditary Spastic Paraplegia.JACC. Case reports · 2026Article
- Depletion of TECPR2 leads to mitochondrial failure associated with neurodegeneration.Autophagy · 2026Article
- Modelling human proteostasis and organelle homeostasis disorders in yeast and its application in drug discovery.FEMS yeast research · 2026Review
- Rescue of mitochondrial and neurite pathology inBrain communications · 2026Article
- 3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with MonoallelicActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.International journal of molecular sciences · 2025Review
- Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.International journal of molecular sciences · 2025Review
- Article
- Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023Review
- A novel homozygous variant in theAmerican journal of ophthalmology case reports · 2022Article
- Molecular Genetics Overview of Primary Mitochondrial Myopathies.Journal of clinical medicine · 2022Review
- Therapy Prospects for Mitochondrial DNA Maintenance Disorders.International journal of molecular sciences · 2021Review
- Genetic ataxias: update on classification and diagnostic approaches.Current neurology and neuroscience reports · 2021Review
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- A NovelFrontiers in genetics · 2021Article
- Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.EBioMedicine · 2020Article
- Spastic paraplegia type 7 associated with a broad clinical phenotype.Irish journal of medical science · 2020Article
- Review
- Metalloproteases of the Inner Mitochondrial Membrane.Biochemistry · 2017Review
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38-97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.
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