Neuromuscular Disorders
Volume 18, Issue 1 , Pages 59-62 , January 2008

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

  • Liesbeth S. Smit

      Affiliations

    • Department of Pediatric Neurology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
    • Department of Pediatrics, Division of Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
    • Corresponding Author InformationCorresponding author. Address: Department of Pediatric Neurology and Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands. Tel.: +31 10 4636761; fax: +31 10 3636345.
  • ,
  • Daniella Roofthooft

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
  • ,
  • Fred van Ruissen

      Affiliations

    • Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
  • ,
  • Frank Baas

      Affiliations

    • Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
  • ,
  • Pieter A. van Doorn

      Affiliations

    • Department of Neurology, Erasmus MC, Rotterdam, The Netherlands

Received 20 March 2007 ,Revised 6 June 2007 ,Accepted 25 July 2007.

References 

  1. Boylan KB, Ferriero DM, Greco CM, Sheldon RA, Dew M. Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol. 1992;31:337–340
  2. Phillips JP, Warner LE, Lupski JR, Garg BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999;20:226–232
  3. Nara T, Akashi M, Nonaka I, et al. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci. 1995;129:170–174
  4. Harati Y, Butler IJ. Congenital hypomyelinating neuropathy. J Neurol Neurosurg Psychiatry. 1985;48:1269–1276
  5. Garcia A, Calleja J, Antolin FM, Berciano J. Peripheral motor and sensory nerve conduction studies in normal infants and children. Clin Neurophysiol. 2000;111:513–520
  6. Lemke G, Lamar E, Patterson J. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron. 1988;1:73–83
  7. Choe S. Packing of myelin protein zero. Neuron. 1996;17:363–365
  8. Warner LE, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot–Marie-Tooth type 1B, Dejerine–Sottas, and congenital hypomyelination. Neuron. 1996;17:451–460
  9. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003;54:398–402
  10. Mandich P, Mancardi GL, Varese A, et al. Congenital hypomyelination due to myelin protein zero Q215X mutation. Ann Neurol. 1999;45:676–678
  11. Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain. 2004;127:371–384
  12. Eichberg J. Myelin P0: new knowledge and new roles. Neurochemical Res. 2002;27:1331–1340
  13. Xu W, Shy M, Kamholz J, et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol. 2001;155:439–446
  14. Meggouh F, de Visser M, Arts WF, de Coo RI, van Schaik IN, Baas F. Early onset neuropathy in a compound form of Charcot–Marie-Tooth disease. Ann Neurol. 2005;57:589–591
  15. Kochanski A, Drac H, Kabzinska D, et al. A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Neurology. 2004;62:2122–2123
  16. Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998;18:382–384
  17. Kasman M, Bernstein L, Schulman S. Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence. Neurology. 1976;26:565–573
  18. Chandra SR, Kalpana D, Radhakrishnan VV, Srinivasa Kannan SR. Congenital hypomyelinating neuropathy. Indian Ped. 2003;40:1084–1087
  19. Balestrini MR, Cavaletti G, D’Angelo A, Tredici G. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuroped. 1991;22:65–70

PII: S0960-8966(07)00683-9

doi: 10.1016/j.nmd.2007.07.011

Neuromuscular Disorders
Volume 18, Issue 1 , Pages 59-62 , January 2008