Sleep related problems as a nonmotor symptom of dentatorubropallidoluysian atrophy

Hyeyun Kim; Ji Young Yun; Kyoung Gyu Choi; Heasoo Koo; Hyun Jeong Han

doi:10.3346/jkms.2018.33.e130

Sleep related problems as a nonmotor symptom of dentatorubropallidoluysian atrophy

Hyeyun Kim, Ji Young Yun, Kyoung Gyu Choi, Heasoo Koo, Hyun Jeong Han

Department of Neurology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.

Original language	English
Article number	e130
Journal	Journal of Korean Medical Science
Volume	33
Issue number	17
DOIs	https://doi.org/10.3346/jkms.2018.33.e130
State	Published - 23 Apr 2018

Bibliographical note

Publisher Copyright:
© 2018 The Korean Academy of Medical Sciences.

Keywords

Cerebellar ataxia
Dentatorubropallidoluysian Atrophy

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10.3346/jkms.2018.33.e130

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title = "Sleep related problems as a nonmotor symptom of dentatorubropallidoluysian atrophy",

abstract = "Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.",

keywords = "Cerebellar ataxia, Dentatorubropallidoluysian Atrophy",

author = "Hyeyun Kim and Yun, {Ji Young} and Choi, {Kyoung Gyu} and Heasoo Koo and Han, {Hyun Jeong}",

note = "Publisher Copyright: {\textcopyright} 2018 The Korean Academy of Medical Sciences.",

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doi = "10.3346/jkms.2018.33.e130",

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T1 - Sleep related problems as a nonmotor symptom of dentatorubropallidoluysian atrophy

AU - Kim, Hyeyun

AU - Yun, Ji Young

AU - Choi, Kyoung Gyu

AU - Koo, Heasoo

AU - Han, Hyun Jeong

PY - 2018/4/23

Y1 - 2018/4/23

N2 - Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.

AB - Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.

KW - Cerebellar ataxia

KW - Dentatorubropallidoluysian Atrophy

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Sleep related problems as a nonmotor symptom of dentatorubropallidoluysian atrophy

Abstract

Bibliographical note

Keywords

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