Hypomyelinating leukodystrophy

Definition:

Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1 encoding proteolipid protein lipophilin. Pelizaeus-Merzbacher-like disease (PMLD) is clinically similar to classical PMD but is not associated with PLP1 mutations. PMLD appears to be inherited in an autosomal recessive manner and mutations have been identified in GJC2, AIMP1, HSPD1 and so on.

References:

[1]. Anju Shukla, et al. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet. 2018 Jan;63(1):19-25. [Content Brief]

[2]. Antonella Sferra, et al. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 Nov 29;144(10):3020-3035. [Content Brief]

[3]. Cas Simons, et al. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain. 2017 Dec 1;140(12):3105-3111. [Content Brief]

[4]. Daniella Magen, et al. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet. 2008 Jul;83(1):30-42. [Content Brief]

[5]. Davide Tonduti, et al. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. [Content Brief]

[6]. E Meyer, et al. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2011 Dec;104(4):637-43. [Content Brief]

[7]. Eline M C Hamilton, et al. UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology. 2017 Oct 24;89(17):1821-1828. [Content Brief]

[8]. Federico Zara, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. [Content Brief]

[9]. Geneviève Bernard, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. [Content Brief]

[10]. Gergely Karsai, et al. DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. J Clin Invest. 2019 Mar 1;129(3):1229-1239. [Content Brief]

[11]. Hirotomo Saitsu, et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. [Content Brief]

[12]. Huifang Yan, et al. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. Am J Hum Genet. 2019 Nov 7;105(5):996-1004. [Content Brief]

[13]. Imen Dorboz, et al. Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation. Neurol Genet. 2018 Dec 3;4(6):e289. [Content Brief]

[14]. Isabelle Thiffault, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 7;6:7623. [Content Brief]

[15]. J Y Garbern, et al. Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis. Cell Mol Life Sci. 2007 Jan;64(1):50-65. [Content Brief]

[16]. Jinglan Zhang, et al. A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLoS Genet. 2016 Apr 27;12(4):e1005848. [Content Brief]

[17]. Katsumori Segawa, et al. A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes. J Clin Invest. 2021 Sep 15;131(18):e148005. [Content Brief]

[18]. Korbinian M Riedhammer, et al. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain. 2021 Mar 3;144(2):411-419. [Content Brief]

[19]. Lama Al-Abdi, et al. CNP deficiency causes severe hypomyelinating leukodystrophy in humans. Hum Genet. 2020 May;139(5):615-622. [Content Brief]

[20]. Marisa I Mendes, et al. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. Am J Hum Genet. 2018 Apr 5;102(4):676-684. [Content Brief]

[21]. Miora Feinstein, et al. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet. 2010 Dec 10;87(6):820-8. [Content Brief]

[22]. Nicole I Wolf, et al. Mutations in RARS cause hypomyelination. Ann Neurol. 2014 Jul;76(1):134-9. [Content Brief]

[23]. Simon Edvardson, et al. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. J Med Genet. 2016 Feb;53(2):132-7. [Content Brief]

[24]. Tojo Nakayama, et al. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 7;96(5):709-19. [Content Brief]

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