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| Home > Publications Database > Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. |
| Home > Publications Database > Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. |
| Journal Article | DZNE-2024-00249 |
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2024
[Verlag nicht ermittelbar]
Westchester, Ill.
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Please use a persistent id in citations: doi:10.5664/jcsm.10854
Abstract: McLeod syndrome is a very rare multisystemic neurodegenerative disease linked to mutations in the XK gene. It has cardiac, neurologic, and neuromuscular manifestations and shares similarities with Huntington's disease. The aim of this study was to evaluate sleep patterns of patients affected by McLeod syndrome.This retrospective case series of four males who underwent diagnostic polysomnography (mean age 53.8 ± 2.5 years) includes self-reported and objective evaluation of sleep using the Epworth Sleepiness Scale, genetic tests, documentation of clinical course and features, and laboratory-based full-night attended video-polysomnography.In three out of four patients, an Epworth Sleepiness Scale score ≥ 7 was evident. The average apnea-hypopnea index was 45.0 ± 19.0, with predominantly obstructive phenotype in three patients and predominant central events (central sleep apnea syndrome) in one patient. A significantly increased periodic limb movement index during sleep was observed in all patients. All patients tolerated continuous positive airway pressure or pressure controlled therapy.Polysomnography of all patients confirmed sleep apnea syndrome as a feature of McLeod syndrome. Three patients were diagnosed with obstructive sleep apnea and one with central sleep apnea syndrome. In addition, periodic limb movement index was increased in all patients.Dieter M, Kevin P, Tobias V, et al. Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. J Clin Sleep Med. 2024;20(3):339-344.
Keyword(s): Male (MeSH) ; Humans (MeSH) ; Middle Aged (MeSH) ; Sleep Apnea, Central (MeSH) ; Neurodegenerative Diseases (MeSH) ; Retrospective Studies (MeSH) ; Sleepiness (MeSH) ; Sleep Apnea Syndromes: complications (MeSH) ; Sleep Apnea Syndromes: diagnosis (MeSH) ; Documentation (MeSH) ; Neuroacanthocytosis (MeSH) ; McLeod syndrome ; XK gene ; central sleep apnea ; obstructive sleep apnea ; periodic limb movements ; polysomnography
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; IF < 5 ; JCR ; PubMed Central ; SCOPUS ; Web of Science Core Collection
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