Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

REFERENCES

1. 1.↵
   2. Paznekas W,
   3. Karczeski B,
   4. Vermeer S, et al

   . GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009;30:724–33 doi:10.1002/humu.20958 pmid:19338053

   CrossRefPubMedWeb of Science
2. 2.↵
   2. Loddenkemper T,
   3. Grote K,
   4. Evers S, et al

   . Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002;249:584–95 doi:10.1007/s004150200068 pmid:12021949

   CrossRefPubMedWeb of Science
3. 3.↵
   2. Beighton P,
   3. Hamersma H,
   4. Raad M

   . Oculodento-osseous dysplasia: heterogeneity or variable expression? Clin Genet 1979;16:169–77 pmid:226298

   PubMed
4. 4.↵
   2. Park KW,
   3. Ryu HS,
   4. Kim J, et al

   . Oculodentodigital dysplasia presenting as spastic paraparesis: the first genetically confirmed Korean case and a literature review. J Mov Disord 2017;10:149–53 doi:10.14802/jmd.17050 pmid:28950687

   CrossRefPubMed
5. 5.↵
   2. Furuta N,
   3. Ikeda N,
   4. Hirayanagi K, et al

   . Novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. Intern Med 2012;51:93–98 doi:10.2169/internalmedicine.51.5770 pmid:22214631

   CrossRefPubMed
6. 6.↵
   2. Gutmann DH,
   3. Zackai EH,
   4. McDonald-McGinn DM, et al

   . Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 1991;41:18–20 doi:10.1002/ajmg.1320410106 pmid:1659191

   CrossRefPubMedWeb of Science
7. 7.↵
   2. Provencher S

   . Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672–79 doi:10.1002/mrm.1910300604 pmid:8139448

   CrossRefPubMedWeb of Science
8. 8.↵
   2. van der Voorn JP,
   3. Pouwels PJ,
   4. Hart AA, et al

   . Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology 2006;241:510–17 doi:10.1148/radiol.2412051345 pmid:17057071

   CrossRefPubMedWeb of Science
9. 9.↵
   2. Steenweg ME,
   3. Wolf NI,
   4. van Wieringen WN, et al

   . Quantitative MRI in hypomyelinating disorders: correlation with motor handicap. Neurology 2016;87:752–58 doi:10.1212/WNL.0000000000003000 pmid:27440150

   CrossRefPubMed
10. 10.↵
    2. Harting I,
    3. Boy N,
    4. Heringer J, et al

    . (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis 2015;38:829–38 doi:10.1007/s10545-015-9826-8 pmid:25860816

    CrossRefPubMed
11. 11.↵
    2. Thomsen M,
    3. Schneider U,
    4. Weber M, et al

    . The different appearance of the oculodentodigital dysplasia syndrome. J Pediatr Orthop B 1998;7:23–26 pmid:9481652

    PubMed
12. 12.↵
    2. Wiest T,
    3. Herrmann O,
    4. Stögbauer F, et al

    . Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet 2006;70:71–72 doi:10.1111/j.1399-0004.2006.00631.x pmid:16813608

    CrossRefPubMed
13. 13.↵
    2. Alao MJ,
    3. Bonneau D,
    4. Holder-Espinasse M, et al

    . Oculo-dento-digital dysplasia: lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging. Eur J Med Genet 2010;53:19–22 doi:10.1016/j.ejmg.2009.08.007 pmid:19808103

    CrossRefPubMed
14. 14.↵
    2. Ganos C,
    3. Münchau A,
    4. Holst B, et al

    . Teaching neuroimages: oculodentodigital dysplasia. Neurology 2012;79:e140 doi:10.1212/WNL.0b013e31826e9b51 pmid:23071171

    FREE Full Text
15. 15.↵
    2. Barzegar M,
    3. Sayadnasiri M,
    4. Tabrizi A

    . Epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia. Iran J Child Neurol 2012;6:39–43 pmid:24665271

    PubMed
16. 16.↵
    2. Ginsberg LE,
    3. Jewett T,
    4. Grub R, et al

    . Oculodental digital dysplasia: neuroimaging in a kindred. Neuroradiology 1996;38:84–86 doi:10.1007/BF00593230 pmid:8773286

    CrossRefPubMed
17. 17.↵
    2. Jamsheer A,
    3. Badura-Stronka M,
    4. Sowińska A, et al

    . A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. Clin Genet 2010;78:94–97 doi:10.1111/j.1399-0004.2010.01412.x pmid:20597923

    CrossRefPubMed
18. 18.↵
    2. Norton K,
    3. Carey J,
    4. Gutmann D

    . Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. Am J Med Genet 1995;57:458–61 doi:10.1002/ajmg.1320570320 pmid:7677152

    CrossRefPubMedWeb of Science
19. 19.↵
    2. Shapiro R,
    3. Griffin J,
    4. Stine O

    . Evidence for genetic anticipation in the oculodentodigital syndrome. Am J Med Genet 1997;71:36–41 doi:10.1002/(SICI)1096-8628(19970711)71:1<36::AID-AJMG7≫3.0.CO;2-O pmid:9215766

    CrossRefPubMedWeb of Science
20. 20.↵
    2. Stanislaw CL,
    3. Narvaez C,
    4. Rogers RG, et al

    . Oculodentodigital dysplasia with cerebral white matter abnormalities: an additional case. Proc Greenwood Genet Center 1998;17:20–24
21. 21.↵
    2. van Es RJ,
    3. Wittebol-Post D,
    4. Beemer FA

    . Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007;36:858–60 doi:10.1016/j.ijom.2007.03.004 pmid:17509830

    CrossRefPubMedWeb of Science
22. 22.↵
    2. Amador C,
    3. Mathews AM,
    4. Del Carmen Montoya M, et al

    . Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. J Child Neurol 2008;23:901–05 doi:10.1177/0883073808317730 pmid:18660473

    CrossRefPubMed
23. 23.↵
    2. Schrander-Stumpel C,
    3. Franke C

    . Central nervous system abnormalities in oculodentodigital dysplasia. Genet Counsel 1996;7:233–35 pmid:8897047

    PubMedWeb of Science
24. 24.↵
    2. Kogame T,
    3. Dainichi T,
    4. Shimomura Y, et al

    . Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. J Dermatol 2014;41:1095–97 doi:10.1111/1346-8138.12682 pmid:25388818

    CrossRefPubMed
25. 25.↵
    2. Tumminelli G,
    3. Di Donato I,
    4. Guida V, et al

    . Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene. J Alzheimers Dis 2016;49:27–30 doi:10.3233/JAD-150424 pmid:26444782

    CrossRefPubMed
26. 26.↵
    2. Schiffmann R,
    3. van der Knaap M

    . Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750–59 doi:10.1212/01.wnl.0000343049.00540.c8 pmid:19237705

    Abstract/FREE Full Text
27. 27.↵
    2. Pouwels PJ,
    3. Vanderver A,
    4. Bernard G, et al

    . Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol 2014;76:5–19 doi:10.1002/ana.24194 pmid:24916848

    CrossRefPubMed
28. 28.↵
    2. Biancheri R,
    3. Rosano C,
    4. Denegri L, et al

    . Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. Eur J Hum Genet 2013;21:34–39 doi:10.1038/ejhg.2012.93 pmid:22669416

    CrossRefPubMed
29. 29.↵
    2. Cayami FK,
    3. Bugiani M,
    4. Pouwels PJ, et al

    . 4H leukodystrophy: lessons from 3T imaging. Neuropediatrics 2018;49:112–17 doi:10.1055/s-0037-1608780 pmid:29179231

    CrossRefPubMed
30. 30.↵
    2. Steenweg ME,
    3. Wolf NI,
    4. Schieving JH, et al

    . Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol 2012;69:125–28 doi:10.1001/archneurol.2011.1030 pmid:22232354

    CrossRefPubMed
31. 31.↵
    2. Taft RJ,
    3. Vanderver A,
    4. Leventer RJ, et al

    . Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet 2013;92:774–80 doi:10.1016/j.ajhg.2013.04.006 pmid:23643384

    CrossRefPubMed
32. 32.↵
    2. Dos Santos MM,
    3. Grond-Ginsbach C,
    4. Aksay SS, et al

    . Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. J Neurol 2012;259:579–81 doi:10.1007/s00415-011-6225-4 pmid:21909802

    CrossRefPubMed
33. 33.↵
    2. Brunberg JA,
    3. Jacquemont S,
    4. Hagerman RJ, et al

    . Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002;23:1757–66 pmid:12427636

    Abstract/FREE Full Text
34. 34.↵
    2. Scheper GC,
    3. van der Klok T,
    4. van Andel RJ, et al

    . Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534–39 doi:10.1038/ng2013 pmid:17384640

    CrossRefPubMedWeb of Science