Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A

• Tsuji, Yukio

• Ueda, Takehiro

• Sekiguchi, Kenji

• Nishiyama, Masahiro

• Kanda, Fumio

• Nishigori, Chikako

• Toda, Tatsushi

• Matsumoto, Riki

Bibliographic Information

Other Title

• Progressive length‐dependent polyneuropathy in xeroderma pigmentosum group A

Abstract

Background In this study, we aimed to investigate the progression of peripheral nervous system involvement in xeroderma pigmentosum group A (XP-A). Methods We performed nerve conduction studies in 17 genetically confirmed XP-A patients and conducted follow-ups. Of these patients we also analyzed gray matter volume (GMV) using brain MRI and assessed the severity score of clinical and skin manifestation. Results We found significant reduction in the motor and sensory nerve action potential amplitude and mild reduction in conduction velocity. These findings were predominant in sensory nerves and the lower limbs, were observed since early childhood, and gradually deteriorated with age. Conclusions The electrophysiological characteristics of XP-A patients are consistent with length-dependent axonal polyneuropathy and there is progressive deterioration from early childhood.

Journal

• Muscle & Nerve

  Muscle & Nerve 62 (4), 534-540, 2020-10

  Wiley

Keywords

• early childhood
• length-dependent polyneuropathy
• nerve conduction study
• peripheral nervous system
• progressive deterioration
• xeroderma pigmentosum

Details

• CRID: 1050012570392158080
• NII Article ID: 120006892090
• NII Book ID: AA00749357
• DOI: 10.1002/mus.27028
• ISSN: 10974598
• ISSN: 0148639X
• HANDLE: 20.500.14094/90007534
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.27028
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27028
• Web Site: https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.27028
• Text Lang: en
• Article Type: journal article
• Data Source:
  • IRDB
  • Crossref
  • CiNii Articles
  • KAKEN