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Journal of Neurology

, Volume 259, Issue 10, pp 2234–2236 | Cite as

Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep

  • Ayumi Hida
  • Hiroyuki Ishiura
  • Noritoshi Arai
  • Hisayo Fukuoka
  • Kanehiro Hasuo
  • Jun Goto
  • Yoshikazu Uesaka
  • Shoji Tsuji
  • Sousuke Takeuchi
Letter to the Editors

Dear Sirs,

Adult-onset Alexander disease (AOAD) is clinically characterized by slowly progressive bulbar palsy, pyramidal signs, spastic paresis and cerebellar ataxia with atrophy of the medulla oblongata and upper cervical cord, and the glial fibrillary acidic protein (GFAP) gene has been identified to be the causative gene for Alexander disease [3]. So far, some reports have mentioned that AOAD presents with sleep apnea [1, 4, 5, 8, 9, 10, 12], but the apnea mechanism is not sufficiently known. Here, we report an AOAD patient presented with vocal cord paralysis during sleep. This is the first report indicating that AOAD presented with vocal cord abductor paralysis, followed by the rapid progression of vocal cord dysfunction.

A 61-year-old woman was admitted to our hospital because of gait disturbance over a 4-year period. She has been described as “round shouldered” since childhood and would snore loudly while sleeping since her early 30 s. Her family history revealed that even her...

Keywords

Obstructive Sleep Apnea Glial Fibrillary Acidic Protein Vocal Cord Obstructive Sleep Apnea Syndrome Multiple System Atrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We thank Crimson Interactive Pvt. Ltd. for English editing and proofreading.

Conflicts of interest

None.

Supplementary material

Awake-laryngofiberscopy showed mild abduction restriction during inspiration and glottic stenosis during expiration. (MP4 3717 kb)

After intravenous diazepam (5 mg) administration, the bilateral vocal cords were almost fixed in the paramedian position, and only a 1-mm hole remained during inspiration. (MP4 4344 kb)

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Ayumi Hida
    • 1
    • 5
  • Hiroyuki Ishiura
    • 4
  • Noritoshi Arai
    • 1
  • Hisayo Fukuoka
    • 2
  • Kanehiro Hasuo
    • 3
  • Jun Goto
    • 4
  • Yoshikazu Uesaka
    • 1
  • Shoji Tsuji
    • 4
  • Sousuke Takeuchi
    • 1
  1. 1.Department of NeurologyNational Center for Global Health and MedicineTokyoJapan
  2. 2.Department of OtorhinolaryngologyNational Center for Global Health and MedicineTokyoJapan
  3. 3.Department of RadiologyNational Center for Global Health and MedicineTokyoJapan
  4. 4.Department of Neurology, Graduate School of MedicineUniversity of TokyoBunkyo-kuJapan
  5. 5.Department of Neurology, Graduate School of MedicineUniversity of TokyoBunkyo-kuJapan

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