A marked decrease of orexin in the cerebrospinal fluid in a patient with myotonic dystrophy type 1 showing an excessive daytime sleepiness

Tomoaki Iwata, Naoki Suzuki, Hideki Mizuno, Ichiro Nakashima, Takashi Kanbayashi, Yasuto Itoyama

研究成果: Article査読

6 被引用数 (Scopus)

抄録

Excessive daytime somnolence is one of the common complaints in patients with myotonic dystrophy. Here we report a 60-year-old female case of myotonic dystrophy type 1 with narcolepsy due to medical condition. The size of the CTG repeat in the 3' untranslated region of the DMPK gene was 1,800-2,400 repeats. Brain MRI was normal. Polysomnography revealed sleep apnea and chronic alveolar hypoventilation. Multiple sleep latency tests revealed normal sleep latencies and sleep onset REM was not observed. Orexin/hypocretin in the cerebrospinal fluid was markedly decreased to an undetectable level. Such sleep-related disorders may worsen the quality of life and possibly cause sudden death in patients with myotonic dystrophy. Narcolepsy associated with myotonic dystrophy should be evaluated appropriately.

本文言語English
ページ(範囲)437-439
ページ数3
ジャーナルRinshō shinkeigaku = Clinical neurology
49
7
DOI
出版ステータスPublished - 2009 7

ASJC Scopus subject areas

  • Clinical Neurology

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