Clinical-sonographic and neurophysiological comparisons in hereditary motor and sensory neuropathy

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Abstract

The article presents the results of ultrasound studies in patients with hereditary motor and sensory neuropathy, or Charcot-Marie-Tooth disease (CMT). Based on standard electroneuromiography, the patients were divided into two groups with demyelinating (n=25) or axonal (n=31) process, CMT1 and CMT2 respectively. Demyelinating forms were characterized by specific prolonged sonographic changes with uniform thickening of all studied nerves and abnormalities of their cable structure. In axonal forms the character of structural changes was not as severe and specific as in CMT1, but symmetrical prolongation of the nerve structure was seen in this type of CMT as well. The description of genetically confirmed familial cases of HMSN type 1X in male relatives is presented, which demonstrates modern potential of unltrasound studies in diagnosing the involvement of peripheral nerves in patients from a heterogeneous group of hereditary neuropahies.

About the authors

N. B. Vuytsik

Research Center of Neurology

Author for correspondence.
Email: vyitsik7@mail.ru
Russian Federation, Moscow

Andrey O. Chechetkin

Research Center of Neurology

Email: vyitsik7@mail.ru
ORCID iD: 0000-0002-8726-8928

D. Sci. (Med.), Head, Ultrasound diagnostic laboratory

Russian Federation, Moscow

E. V. Pavlov

Research Center of Neurology

Email: vyitsik7@mail.ru
Russian Federation, Moscow

Sergey A. Klyushnikov

Research Center of Neurology

Email: vyitsik7@mail.ru
Russian Federation, Moscow

Sergey N. Illarioshkin

Research Center of Neurology

Email: vyitsik7@mail.ru
ORCID iD: 0000-0002-2704-6282

D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research

Russian Federation, Moscow

References

  1. Левин О.С. Полинейропатии. М.: МИА, 2005.
  2. Иллариошкин С.Н., Иванова-Смоленская И.А., Маркова Е.Д. ДНК-диагностика и медико-генетическое консультирование в неврологии. М.: МИА, 2002.
  3. Banchs I., Casasnovas C., Albert A. et al. Diagnosis of Charcot-Marie-Tooth disease. J. Biomed. Biotechnol. 2009; Article ID 985415: 1–10.
  4. Barisic N., Claeys K.G., Sirotkovic-Skerlev M. Charcot-Marie-Tooth Disease: a clinico-genetic confrontation. Ann. Hum. Genet. 2008; 72:416–441.
  5. Bernard R., De Sandre-Giovannoli A., Delague V. et al. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. NeuroMolecular Medicine 2006; 8: 87–106.
  6. Bianchi S. Ultrasound of the peripheral nerves. Joint Bone Spine 2008; 75: 643–649.
  7. Cartwright M.S., Brown M.E., Eulitt P. et al. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. Muscle Nerve 2009; 40: 98–102.
  8. Fabrizi G.M., Cavallaro T., Angiari C. et al. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 2004; 62: 1429–1431.
  9. Heinemeyer O., Reimers C.D. Ultrasound of radial, ulnar, median and sciatic nerves in healthy subjects and patients with hereditary motor and sensory neuropathies. Ultrasound Med. Biol. 1999; 25: 481–485.
  10. Martinoli C., Schenone A., Bianchi S. et al. Sonography of the median nerve in Charcot-Marie-Tooth disease. AJR 2002; 178: 1553–1556.
  11. Pareyson C., Marchesi D. Diagnosis, natural history and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009; 8: 654–667.
  12. Sereda M., Griffiths I., Pühlhofer A. et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996; 16: 1049–1060.
  13. Thomas P.K. Overview of Charcot-Marie-Tooth disease type 1A. Ann. N Y Acad. Sci. 1999; 883: 1–5.
  14. Züchner S., Vance J.M. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. NeuroMolecular Medicine 2006;8: 63–74.

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Copyright (c) 2014 Vuytsik N.B., Chechetkin A.O., Pavlov E.V., Klushnikov S.A., Illarioshkin S.N.

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