44
Views
0
CrossRef citations to date
0
Altmetric
Review

Update on leukodystrophies

Pages 559-565 | Published online: 23 Aug 2007

Bibliography

  • van der Knaap MS , BreiterSN, NaiduS, HartAAM, ValkJ: Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach.Radiology213(1), 121–133 (1999).
  • Timmons M , TsokosM, AsabMAet al.: Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology67(11), 2066–2069 (2006).
  • Wolf NI , HartingI, BoltshauserEet al.: Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology64(8), 1461–1464 (2005).
  • Zara F , BiancheriR, BrunoCet al.: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat. Genet.38(10), 1111–1113 (2006).
  • Uhlenberg B , SchuelkeM, RüschendorfFet al.: Mutations in the gene encoding gap junction protein α 12 (connexin 46.6) cause Pelizaeus–Merzbacher-like disease. Am. J. Hum. Genet.75(2), 251–260 (2004).
  • Bugiani M , ShahwanSAI, LamanteaEet al.: GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology67(2), 273–279 (2006).
  • Orthmann-Murphy JL , EnriquezAD, AbramsCK, SchererSS: Loss-of-function GJA12/connexin 47 mutations cause Pelizaeus–Merzbacher-like disease.Mol. Cell. Neurosci.34(4), 629–641 (2007).
  • Salviati L , TrevissonE, BaldonMCet al.: A novel deletion in the GJA12gene causes Pelizaeus–Merzbacher-like disease. Neurogenetics8(1), 57–60 (2007).
  • Wolf NI , CundallM, RutlandPet al.: Frameshift mutation in GJA12leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics8(1), 39–44 (2007).
  • Bergoffen J , SchererSS, WangSet al.: Connexin mutations in X-linked Charcot–Marie–Tooth disease. Science262(5142), 2039–2042 (1993).
  • Bruzzone R : Null mutations of connexin 32 in patients with X-linked Charcot–Marie–Tooth disease.Neuron13(5), 1253–1260 (1994).
  • Ionasescu V , SearbyC, IonasescuR: Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot–Marie–Tooth neuropathy.Hum. Mol. Genet.3(2), 355–358 (1994).
  • Menichella DM : Connexins are critical for normal myelination in the CNS.J. Neurosci.23(13), 5963–5973 (2003).
  • Odermatt B , WellershausK, WallraffAet al.: Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. J. Neurosci.23(11), 4549–4559 (2003).
  • Crow YJ , HaywardBE, ParmarRet al.: Mutations in the gene encoding the 3´–5´ DNA exonuclease TREX1 cause Aicardi–Goutières syndrome at the AGS1locus. Nat. Genet.38(8), 917–920 (2006).
  • Crow YJ , HaywardBE, ParmarRet al.: Mutations in genes encoding ribonuclease H2 subunits cause Aicardi–Goutieres syndrome and mimic congenital viral brain infection. Nat. Genet.38(8), 910–916 (2006).
  • Eldridge R , AnayiotosCP, SchlesingerSet al.: Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N. Engl. J. Med.311(15), 948–953 (1984).
  • Padiath QS , SaigohK, SchiffmannRet al.: Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat. Genet.38(10), 1114–1123 (2006).
  • Melberg A , HallbergL, KalimoH, Raininko R:MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Am. J. Neuroradiol.27(4), 904–911 (2006).
  • van der Knaap MS , van der Voorn P, Barkhof Fet al.: A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol.53(2), 252–258 (2003).
  • Linnankivi T , LundbomN, AuttiTet al.: Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology63(4), 688–692 (2004).
  • Serkov SV , ProninIN, BykovaOVet al.: Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics35(1), 1–5 (2004).
  • Scheper GC , van der Klok T, van Andel RJet al.: Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet.39(4), 534–539 (2007).
  • Kantor L , HardingHP, RonDet al.: Heightened stress response in primary fibroblasts expressing mutant eIF2Bgenes from CACH/VWM leukodystrophy patients. Hum. Genet.118(1), 99–106 (2005).
  • van der Voorn JP , van Kollenburg B, Bertrand Get al.: The unfolded protein response in vanishing white matter disease. J. Neuropathol. Exp. Neurol.64(9), 770–775 (2005).
  • van Kollenburg B , van Dijk J, Garbern Jet al.: Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J. Neuropathol. Exp. Neurol.65(7), 707–715 (2006).
  • Koizume S , TakizawaS, FujitaKet al.: Aberrant trafficking of a proteolipid protein in a mild Pelizaeus–Merzbacher disease. Neuroscience141(4), 1861–1869 (2006).
  • Dietrich J , LacagninaM, GassDet al.: EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat. Med.11(3), 277–283 (2005).
  • Talbott JF , CaoQ, EnzmannGUet al.: Schwann cell-like differentiation by adult oligodendrocyte precursor cells following engraftment into the demyelinated spinal cord is BMP-dependent. Glia54(3), 147–159 (2006).
  • Talbott JF , LoyDN, LiuYet al.: Endogenous Nkx2.2+/Olig2+ oligodendrocyte precursor cells fail to remyelinate the demyelinated adult rat spinal cord in the absence of astrocytes. Exp. Neurol.192(1), 11–24 (2005).
  • Teijodo O , MartínezA, PuschMet al.: Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum. Mol. Genet.13(21), 2581–2594 (2004).
  • Gorospe JR , MaletkovicJ: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.Ment. Retard. Dev. Disabil. Res. Rev.12(2), 113–122 (2006).
  • Kleopas A , OrthmannJL, EnriquezA, Paul DL, Scherer SS: Unique distributions of the gap junction proteins connexin 29, connexin 32, and connexin 47 in oligodendrocytes. Glia47, 346–357 (2004).
  • Hagemann TL , ConnorJX, MessingA: Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response.J. Neurosci.26(43), 11162–11173 (2006).
  • Ransom B , BeharT, NedergaardM: New roles for astrocytes (stars at last).Trends Neurosci.26(10), 520–522 (2003).
  • Aldskogius H : Repairing CNS myelin – astrocytes have to do their jobs.Exp. Neurol.192(1), 7–10 (2005).
  • Meikle PJ , GrasbyDJ, DeanCJet al.: Newborn screening for lysosomal storage disorders. Mol. Genet. Metab.88(4), 307–314 (2006).
  • Hubbard WC , MoserAB, TortorelliS, Liu A, Jones D, Moser H: Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol. Genet. Metab.89(1–2), 185–187 (2006).
  • Fogli A , SchiffmannR, HugendublerLet al.: Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur. J. Hum. Genet.12(7), 561–566 (2004).
  • Vanderver A , SchiffmannR, TimmonsMet al.: Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin. Chem.51(11), 2031–2042 (2005).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.