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@ARTICLE{Dieter:268503,
      author       = {Dieter, Munker and Peikert, Kevin and Tobias, Veit and
                      Hermann, Andreas and Lorenz, Nowak and Kathrin, Kahnert and
                      Nikolaus, Kneidinger and Juergen, Behr and Jan, Remi and
                      Adrian, Danek},
      title        = {{P}olysomnographic findings in the ultra-rare {M}c{L}eod
                      syndrome: further documentation of sleep apnea as a possible
                      feature.},
      journal      = {Journal of clinical sleep medicine},
      volume       = {20},
      number       = {3},
      issn         = {1550-9389},
      address      = {Westchester, Ill.},
      publisher    = {[Verlag nicht ermittelbar]},
      reportid     = {DZNE-2024-00249},
      pages        = {339 - 344},
      year         = {2024},
      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.},
      keywords     = {Male / Humans / Middle Aged / Sleep Apnea, Central /
                      Neurodegenerative Diseases / Retrospective Studies /
                      Sleepiness / Sleep Apnea Syndromes: complications / Sleep
                      Apnea Syndromes: diagnosis / Documentation /
                      Neuroacanthocytosis / McLeod syndrome (Other) / XK gene
                      (Other) / central sleep apnea (Other) / obstructive sleep
                      apnea (Other) / periodic limb movements (Other) /
                      polysomnography (Other)},
      cin          = {AG Hermann},
      ddc          = {610},
      cid          = {I:(DE-2719)1511100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11019222},
      pubmed       = {pmid:37811906},
      doi          = {10.5664/jcsm.10854},
      url          = {https://pub.dzne.de/record/268503},
}