Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations - PubMed (original) (raw)

• Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
  Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, S… See abstract for full author list ➔ Pelletier F, et al. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
• Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
  Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich AJ. Takanashi J, et al. Brain Dev. 2014 Mar;36(3):259-63. doi: 10.1016/j.braindev.2013.03.006. Epub 2013 May 3. Brain Dev. 2014. PMID: 23643445
• Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
  Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, Malczyk K, Guerrero K, Gutierrez M, Tran L, Bernard G. Jurkiewicz E, et al. Clin Neuroradiol. 2017 Jun;27(2):213-220. doi: 10.1007/s00062-015-0472-1. Epub 2015 Oct 19. Clin Neuroradiol. 2017. PMID: 26478204 Free PMC article.
• Adult-onset 4H leukodystrophy: a case presentation and review of the literature.
  Uygun Ö, Gündüz T, Eraksoy M, Kürtüncü M. Uygun Ö, et al. Acta Neurol Belg. 2020 Dec;120(6):1461-1462. doi: 10.1007/s13760-020-01297-3. Epub 2020 Feb 12. Acta Neurol Belg. 2020. PMID: 32052360 Review. No abstract available.
• POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
  Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G. Coulombe B, et al. Fac Rev. 2021 Feb 5;10:12. doi: 10.12703/r/10-12. eCollection 2021. Fac Rev. 2021. PMID: 33659930 Free PMC article. Review.