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Three cases of Troyer syndrome in two families of Filipino descent.
Butler S, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L. Butler S, et al. Am J Med Genet A. 2016 Jul;170(7):1780-5. doi: 10.1002/ajmg.a.37658. Epub 2016 Apr 26. Am J Med Genet A. 2016. PMID: 27112432
Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. ...Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) …
Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish po …
Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. Auer-Grumbach M, et al. J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. J Neurol. 1999. PMID: 10463356
A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms. We report her …
A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has be …
Developmental and degenerative features in a complicated spastic paraplegia.
Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Manzini MC, et al. Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923. Ann Neurol. 2010. PMID: 20437587 Free PMC article.
OBJECTIVE: We 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 famili …
OBJECTIVE: We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spa …
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Bizzari S, et al. Metab Brain Dis. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. Metab Brain Dis. 2017. PMID: 28875386
Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. ...The mutation segregated with the clinical phenotype in all patients. In silico algorithms pred …
Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurologi …
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. Bakowska JC, et al. Arch Neurol. 2008 Apr;65(4):520-4. doi: 10.1001/archneur.65.4.520. Arch Neurol. 2008. PMID: 18413476 Free PMC article.
A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. ...RESULTS: Spartin protein is undetectable in se …
A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome …
The hereditary spastic paraplegia protein spartin localises to mitochondria.
Lu J, Rashid F, Byrne PC. Lu J, et al. J Neurochem. 2006 Sep;98(6):1908-19. doi: 10.1111/j.1471-4159.2006.04008.x. J Neurochem. 2006. PMID: 16945107 Free article.
Hereditary spastic paraplegia describes a diverse group of disorders characterized by progressive paraparesis primarily affecting lower limbs. In Troyer syndrome, an autosomal recessive form of hereditary spastic paraplegia, patients have dysarthria, distal amyotrop …
Hereditary spastic paraplegia describes a diverse group of disorders characterized by progressive paraparesis primarily affecting lower limb …
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.
Milewska M, Byrne PC. Milewska M, et al. Cell Biol Int. 2015 Sep;39(9):1007-15. doi: 10.1002/cbin.10472. Epub 2015 May 8. Cell Biol Int. 2015. PMID: 25821002
Mutations in the SPG20 gene encoding spartin cause an autosomal recessive hereditary spastic paraplegia known as Troyer syndrome. To evaluate the cellular consequences of sustained spartin depletion in neuronal cells, we established several clonal SH-SY5Y cell lines …
Mutations in the SPG20 gene encoding spartin cause an autosomal recessive hereditary spastic paraplegia known as Troyer syndrome …
Neuropathy target esterase gene mutations cause motor neuron disease.
Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Rainier S, et al. Am J Hum Genet. 2008 Mar;82(3):780-5. doi: 10.1016/j.ajhg.2007.12.018. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313024 Free PMC article.
Affected subjects resembled those with OPIDN and those with Troyer Syndrome due to SPG20/spartin gene mutation (excluded by genetic linkage and SPG20/spartin sequence analysis). Genome-wide analysis suggested linkage to a 22 cM homozygous locus (D19S565 to D19S884, …
Affected subjects resembled those with OPIDN and those with Troyer Syndrome due to SPG20/spartin gene mutation (excluded by ge …