ArticleAnnals of neurology2010
Developmental and degenerative features in a complicated spastic paraplegia.
Article in Annals of neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Case Report: Novel homozygous pathogenic variant of theFrontiers in genetics · 2026Article
- Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.Neurology. Genetics · 2025Review
- Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.Open biology · 2023Article
- Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.Frontiers in neurology · 2022Article
- An unusual case with genetic transition in a rehabilitation clinic: Troyer syndrome.Turkish journal of physical medicine and rehabilitation · 2021Article
- Why Does the Face Predict the Brain? Neural Crest Induction, Craniofacial Morphogenesis, and Neural Circuit Development.Frontiers in physiology · 2020Review
- A novel missense mutation (c.1006C>T) ofJournal of genetics · 2020Article
- The role of TGF-β superfamily signaling in neurological disorders.Acta biochimica et biophysica Sinica · 2018Review
- Novel SPG20 mutation in an extended family with Troyer syndrome.Metabolic brain disease · 2017Article
- Article
- Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.Journal of the American Society for Mass Spectrometry · 2017Article
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.JIMD reports · 2017Article
- The role of spartin and its novel ubiquitin binding region in DALIS occurrence.Molecular biology of the cell · 2014Article
- Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization.Neuron · 2013Article
- Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.Human molecular genetics · 2012Article
- SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.Molecular biology of the cell · 2010Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
objectiveWe sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay-core features of Troyer syndrome-and a novel mutation in the SPG20 gene, which is also mutated in the Amish. In addition, we analyzed SPG20 expression throughout development to infer how disruption of this gene might generate the constellation of developmental and degenerative Troyer syndrome phenotypes.
methodsClinical characterization of 2 non-Amish families with Troyer syndrome was followed by linkage and sequencing analysis. Quantitative polymerase chain reaction and in situ hybridization analysis of SPG20 expression were carried out in embryonic and adult human and mouse tissue.
resultsTwo Omani families carrying a novel SPG20 mutation displayed clinical features remarkably similar to the Amish patients with Troyer syndrome. SPG20 mRNA is expressed broadly but at low relative levels in the adult brain; however, it is robustly and specifically expressed in the limbs, face, and brain during early morphogenesis.
interpretationNull mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. Maximal expression of SPG20 in the limb buds and forebrain during embryogenesis may explain the developmental origin of the skeletal and cognitive defects observed in this disorder.
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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.