TY  - JOUR
AU  - Dieter, Munker
AU  - Peikert, Kevin
AU  - Tobias, Veit
AU  - Hermann, Andreas
AU  - Lorenz, Nowak
AU  - Kathrin, Kahnert
AU  - Nikolaus, Kneidinger
AU  - Juergen, Behr
AU  - Jan, Remi
AU  - Adrian, Danek
TI  - Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature.
JO  - Journal of clinical sleep medicine
VL  - 20
IS  - 3
SN  - 1550-9389
CY  - Westchester, Ill.
PB  - [Verlag nicht ermittelbar]
M1  - DZNE-2024-00249
SP  - 339 - 344
PY  - 2024
AB  - 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.
KW  - Male
KW  - Humans
KW  - Middle Aged
KW  - Sleep Apnea, Central
KW  - Neurodegenerative Diseases
KW  - Retrospective Studies
KW  - Sleepiness
KW  - Sleep Apnea Syndromes: complications
KW  - Sleep Apnea Syndromes: diagnosis
KW  - Documentation
KW  - Neuroacanthocytosis
KW  - McLeod syndrome (Other)
KW  - XK gene (Other)
KW  - central sleep apnea (Other)
KW  - obstructive sleep apnea (Other)
KW  - periodic limb movements (Other)
KW  - polysomnography (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC11019222
C6  - pmid:37811906
DO  - DOI:10.5664/jcsm.10854
UR  - https://pub.dzne.de/record/268503
ER  -