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J Neurol Neurosurg Psychiatry 2005;76:1109-1114 doi:10.1136/jnnp.2004.048140
  • Paper

Age associated axonal features in HNPP with 17p11.2 deletion in Japan

  1. H Koike1,
  2. M Hirayama1,
  3. M Yamamoto1,
  4. H Ito1,
  5. N Hattori1,
  6. F Umehara2,
  7. K Arimura2,
  8. S Ikeda3,
  9. Y Ando4,
  10. M Nakazato5,
  11. R Kaji6,
  12. K Hayasaka7,
  13. M Nakagawa8,
  14. S Sakoda9,
  15. K Matsumura10,
  16. O Onodera11,
  17. M Baba12,
  18. H Yasuda13,
  19. T Saito14,
  20. J Kira15,
  21. K Nakashima16,
  22. N Oka17,
  23. G Sobue1
  1. 1Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  2. 2Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Japan
  3. 3Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan
  4. 4Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto, Japan
  5. 5Third Department of Internal Medicine, Miyazaki Medical College, Miyazaki, Japan
  6. 6Department of Clinical Neuroscience, University of Tokushima, Tokushima, Japan
  7. 7Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
  8. 8Department of Neurology, Kyoto Prefectural University of Medicine, Kyoto, Japan
  9. 9Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan
  10. 10Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
  11. 11Department of Neurology, Niigata University School of Medicine, Niigata, Japan
  12. 12Department of Neurology, Hirosaki University School of Medicine, Hirosaki, Japan
  13. 13Department of Medicine, Shiga University of Medical Science, Otsu, Japan
  14. 14Department of Rehabilitation, Kitasato University School of Allied Health Sciences, Sagamihara, Japan
  15. 15Department of Neurology, Kyushu University Graduate School of Medicine, Fukuoka, Japan
  16. 16Department of Neurology, Tottori University School of Medicine, Yonago, Japan
  17. 17Department of Rehabilitation, National Minami-Kyoto Hospital, Joyo, Japan
  1. Correspondence to:
 Dr Gen Sobue
 Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466–8550, Japan; sobuegmed.nagoya-u.ac.jp
  • Received 20 June 2004
  • Accepted 18 November 2004
  • Revised 28 September 2004

Abstract

Objective: To clarify age related changes in the clinicopathological features of hereditary neuropathy with liability to pressure palsy (HNPP) in Japanese patients with deletion of 17p11.2, particularly concerning axonal abnormalities.

Methods: Forty eight proband patients from 48 HNPP families were assessed as to clinical, electrophysiological, and histopathological features, including age associated changes beyond those in controls.

Results: Motor conduction studies showed age associated deterioration of compound muscle action potentials in nerves vulnerable to repetitive compression (median, ulnar, and peroneal nerves), but not in others such as the tibial nerve. Sensory conduction studies revealed more profound reduction of action potentials than motor studies with little age related change. Large myelinated fibre loss was seen in the sural nerve irrespective of age at examination.

Conclusions: Irreversible axonal damage may occur at entrapment sites in motor nerves in HNPP patients, progressing with aging. Sensory nerves may show more profound axonal abnormality, but without age association. The electrophysiological features of HNPP are presumed to be a mixture of abnormalities occurring from early in life and acquired features caused by repetitive insults at entrapment sites. Unlike Charcot-Marie-Tooth disease type 1A, age associated axonal damage may not occur unless the nerves are subjected to compression.

Footnotes

  • This work was supported by grants from the Ministry of Health, Labor, and Welfare of Japan.

  • Competing interests: none declared

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