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Adult-onset 4H leukodystrophy: a case presentation and review of the literature

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    Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T et al (2005) Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology 64(8):1461–1464

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    Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M et al (2014) Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 83(21):1898–1905

  3. 3.

    Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G et al (2011) Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 89(3):415–423

  4. 4.

    Daoud H, Tetreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J et al (2013) Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet 50(3):194–197

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Correspondence to Özge Uygun.

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Uygun, Ö., Gündüz, T., Eraksoy, M. et al. Adult-onset 4H leukodystrophy: a case presentation and review of the literature. Acta Neurol Belg (2020). https://doi.org/10.1007/s13760-020-01297-3

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  • POL3-related leukodystrophy
  • POLR3A
  • 4H leukodystrophy
  • Adult onset