ArticleJournal of neurology2004
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
Article in Journal of neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 45 citations in OpenAlex.
- Case Report: Novel homozygous pathogenic variant of theFrontiers in genetics · 2026Article
- An unusual case with genetic transition in a rehabilitation clinic: Troyer syndrome.Turkish journal of physical medicine and rehabilitation · 2021Article
- Final Exon Frameshift BiallelicBrain sciences · 2021Article
- A novel missense mutation (c.1006C>T) ofJournal of genetics · 2020Article
- Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I.Brain sciences · 2018Article
- Novel SPG20 mutation in an extended family with Troyer syndrome.Metabolic brain disease · 2017Article
- Article
- Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners.Journal of experimental neuroscience · 2015Article
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.Human molecular genetics · 2012Article
- SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.Oncogene · 2011Article
- SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.Molecular biology of the cell · 2010Article
- Developmental and degenerative features in a complicated spastic paraplegia.Annals of neurology · 2010Article
- Low cancer incidence rates in Ohio Amish.Cancer causes & control : CCC · 2010Article
- MR imaging findings in autosomal recessive hereditary spastic paraplegia.AJNR. American journal of neuroradiology · 2009Article
- Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?Archives of neurology · 2008Article
- Cargos and genes: insights into vesicular transport from inherited human disease.Journal of medical genetics · 2007Review
- Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.Molecular biology of the cell · 2007Article
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer syndrome in the same Amish population, including three from the original study. Imaging of the brain revealed white matter abnormalities, particularly in the temporoparietal periventricular area. This study, coupled with the recent identification of the gene responsible (SPG20, encoding spartin), increases our understanding of this form of HSP.
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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.