Neuromuscular Disorders
Volume 19, Issue 6 , Pages 427-428 , June 2009

Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype

  • J. Haberlová

      Affiliations

    • DNA laboratory, Department of Child Neurology, Second School of Medicine, Charles University Prague, 15200 Prague 5, Czech Republic
    • Corresponding Author InformationCorresponding author.
    • ,
  • K.G. Claeys

      Affiliations

    • Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
    • ,
  • P. De Jonghe

      Affiliations

    • Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
    • Department of Neurology, University Hospital Antwerp, Antwerpen, Belgium
    • ,
  • P. Seeman

      Affiliations

    • DNA laboratory, Department of Child Neurology, Second School of Medicine, Charles University Prague, 15200 Prague 5, Czech Republic

Received 26 February 2009 ,Revised 15 March 2009 ,Accepted 20 March 2009.

References 

  1. Puls I, Oh SJ, Sumner CJ, et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol. 2005;57:687–694
  2. McEntagart M, Norton N, Williams H, et al. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet. 2001;68:1270–1276
  3. Young ID, Harper PS. Hereditary distal muscular atrophy with vocal cord paralysis. J Neur Psychiat. 1980;43:413–418
  4. Gomez MR, Clermont V, Bernstein J. Progressive bulbar paralysis in childhood. Report of a case with pathologic evidence of nuclear atrophy. Arch Neurol. 1962;6:317–323
  5. Van den Berg-Vos RM, Van den Berg LH, Visser J, et al. The spectrum of lower motor neuron syndromes. J Neurol. 2003;250:1279–1292
  6. Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosensory deafness with possible autosomal dominant inheritance. J Med Genet. 1990;27(3):176–179

PII: S0960-8966(09)00081-9

doi: 10.1016/j.nmd.2009.03.005

Neuromuscular Disorders
Volume 19, Issue 6 , Pages 427-428 , June 2009

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