Novel Mutation in the Gene Causes an Early-Onset Complex Chorea Without Basal Ganglia Lesions

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2021 Apr 5

PMID 33816677

Citations 2

Authors

Anne K van Riesen

Saskia Biskup

Andrea A Kuhn

Angela M Kaindl

Christoph van Riesen

Affiliations

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References

Mencacci N, Carecchio M . Recent advances in genetics of chorea. Curr Opin Neurol. 2016; 29(4):486-95. PMC: 4934600. DOI: 10.1097/WCO.0000000000000352. View

Traschutz A, Hayer S, Bender B, Schols L, Biskup S, Synofzik M . TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids. Parkinsonism Relat Disord. 2018; 60:176-178. DOI: 10.1016/j.parkreldis.2018.09.031. View

Smeitink J, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P . Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006; 79(5):869-77. PMC: 1698578. DOI: 10.1086/508434. View

Perli E, Pisano A, Glasgow R, Carbo M, Hardy S, Falkous G . Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. Sci Rep. 2019; 9(1):5108. PMC: 6434145. DOI: 10.1038/s41598-019-41483-9. View

Calvo S, Compton A, Hershman S, Lim S, Lieber D, Tucker E . Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012; 4(118):118ra10. PMC: 3523805. DOI: 10.1126/scitranslmed.3003310. View

Shamseldin H, Alshammari M, Al-Sheddi T, Salih M, Alkhalidi H, Kentab A . Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012; 49(4):234-41. DOI: 10.1136/jmedgenet-2012-100836. View

Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M . Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings. Neurogenetics. 2019; 20(3):165-172. DOI: 10.1007/s10048-019-00582-5. View

Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rotig A . Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. J Hepatol. 2011; 56(1):294-7. DOI: 10.1016/j.jhep.2011.06.014. View

Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H . Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014; 83(8):743-51. PMC: 4150129. DOI: 10.1212/WNL.0000000000000716. View

10.

Emperador S, Bayona-Bafaluy M, Fernandez-Marmiesse A, Pineda M, Felgueroso B, Lopez-Gallardo E . Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. Eur J Hum Genet. 2016; 25(1):153-156. PMC: 5159760. DOI: 10.1038/ejhg.2016.124. View