Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy
| Autor: | Heasoo Koo, Hyun Jeong Han, Hyeyun Kim, Kyoung Gyu Choi, Ji Young Yun |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Sleep Wake Disorders 0301 basic medicine Pediatrics medicine.medical_specialty Cerebellar Ataxia Neurology & Neuroscience Polysomnography Sleep REM Case Report Nerve Tissue Proteins Autopsy Dentatorubropallidoluysian Atrophy 03 medical and health sciences Fatal Outcome 0302 clinical medicine Seizures Insomnia Humans Medicine Cognitive decline Pathological Aged Family Health Sleep disorder medicine.diagnostic_test Cerebellar ataxia business.industry Brain Neurodegenerative Diseases General Medicine Polyglutamine tract medicine.disease Pedigree 030104 developmental biology Motor Skills Female medicine.symptom Sleep Trinucleotide Repeat Expansion business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Korean Medical Science |
| ISSN: | 1598-6357 1011-8934 |
| DOI: | 10.3346/jkms.2018.33.e130 |
| Popis: | 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. Graphical Abstract |
| Databáze: | OpenAIRE |
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