scholarly journals Sleep in Genetically Confirmed Pantothenate Kinase-Associated Neurodegeneration: A Video-Polysomnographic Study

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Maria Livia Fantini ◽  
Giovanni Cossu ◽  
Andrea Molari ◽  
Monia Cabinio ◽  
Ozlem Uyanik ◽  
...  
Keyword(s):  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Neuronal Loss ◽  
Behavior Disorder ◽  
Emg Activity ◽  
Pantothenate Kinase ◽  
Sleep Behavior ◽  
Dementia Patients ◽  
Normal Ranges ◽  
Sleep Abnormalities

Pantothenate kinase-associated neurodegeneration (PKAN) is a familial or sporadic disease characterized by extrapyramidal and corticospinal signs with dementia. Patients show iron accumulation in the basal ganglia, with neuronal loss and gliosis. A mutation of pantothenate kinase (PANK2) gene localized on chromosome 20p13 has been described in familiar forms, as well as in sporadic patients. We sought to assess sleep characteristics, including muscle activity during REM sleep, in three patients with PANK2 gene mutation-confirmed diagnosis of PKAN. Sleep architecture was altered in all patients with reduced total time of sleep in two and lack of SWS in one. No significant apnea/hypopnea were detected, and mild PLMS were observed in one patient (PLMS index:10.7/h). In contrast with other neurodegenerative diseases, no REM sleep abnormalities, especially REM sleep behavior disorder, were observed in PKAN patients, and percentage of both REM sleep atonia and phasic EMG activity were within normal ranges. Sleep studies may phenotypically differentiate PKAN from other neurodegenerative disorders.

REM sleep behavior disorder and other sleep abnormalities in p. A53T SNCA mutation carriers

SLEEP ◽  
2020 ◽  
Author(s):  
Athina Maria Simitsi ◽  
Christos Koros ◽  
Maria Stamelou ◽  
Dimitra Papadimitriou ◽  
Athanasios Leonardos ◽  
...  
Keyword(s):  
Sleep Disorder ◽  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Alpha Synuclein ◽  
Sleep Behavior ◽  
Asymptomatic Carriers ◽  
Olfactory Testing ◽  
Obstructive Sleep ◽  
Sleep Abnormalities

Abstract Study Objectives Τo assess whether REM Sleep Behavior Disorder (RBD) and other sleep abnormalities occur in carriers of the p.A53T alpha-synuclein gene (SNCA) mutation, using both subjective and objective measures. Methods We have assessed 15 p.A53T carriers (10 manifesting Parkinson’s Disease [PD-A53T] and 5 asymptomatic carriers) with simultaneous Video-PSG (polysomnography) recording, the Epworth Sleepiness Scale (ESS) for daytime sleepiness, the Athens Insomnia Scale (AIS), the RBD Screening Questionnaire (RBDSQ) for clinical features of RBD, the Montreal Cognitive Assessment (MOCA) for cognition and the University of Pennsylvania Smell Identification Test (UPSIT) for olfaction. Results In our cohort, 90% of PD carriers had at least one sleep disorder and 40% had two: 4 RBD, 1 Periodic Limb Movements (PLM), 1 RBD plus PLM, 2 RBD plus moderate Obstructive Sleep Apnea (OSA), and 1 moderate OSA plus Restless Leg Syndrome. No asymptomatic carrier manifested a confirmed sleep disorder. 6/7 PD carriers with RBD had abnormal olfactory testing and 4/7 MOCA below cut off. There was a correlation of both impaired olfaction and cognition with RBD. Conclusions RBD occurs in the majority of PD-A53T, in contrast to most other genetic forms of PD, in which RBD is uncommon. The paucity of a sleep disorder in the asymptomatic carriers suggests that such carriers have not yet reached the prodromal phase when such sleep disorders manifest. Hyposmia in almost all subjects with RBD and cognitive decline in most of them are indicative of the general pattern of disease progression, which however is not uniform.

scholarly journals Validation of Visually Identified Muscle Potentials during Human Sleep Using High Frequency/Low Frequency Spectral Power Ratios

Sensors ◽  
2021 ◽  
Vol 22 (1) ◽  
pp. 55
Author(s):  
Mo H. Modarres ◽  
Jonathan E. Elliott ◽  
Kristianna B. Weymann ◽  
Dennis Pleshakov ◽  
Donald L. Bliwise ◽  
...  
Keyword(s):  
Rem Sleep ◽  
High Frequency ◽  
Spectral Power ◽  
Low Frequency ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Emg Activity ◽  
Sleep Stages ◽  
Sleep Behavior ◽  
Human Sleep

Surface electromyography (EMG), typically recorded from muscle groups such as the mentalis (chin/mentum) and anterior tibialis (lower leg/crus), is often performed in human subjects undergoing overnight polysomnography. Such signals have great importance, not only in aiding in the definitions of normal sleep stages, but also in defining certain disease states with abnormal EMG activity during rapid eye movement (REM) sleep, e.g., REM sleep behavior disorder and parkinsonism. Gold standard approaches to evaluation of such EMG signals in the clinical realm are typically qualitative, and therefore burdensome and subject to individual interpretation. We originally developed a digitized, signal processing method using the ratio of high frequency to low frequency spectral power and validated this method against expert human scorer interpretation of transient muscle activation of the EMG signal. Herein, we further refine and validate our initial approach, applying this to EMG activity across 1,618,842 s of polysomnography recorded REM sleep acquired from 461 human participants. These data demonstrate a significant association between visual interpretation and the spectrally processed signals, indicating a highly accurate approach to detecting and quantifying abnormally high levels of EMG activity during REM sleep. Accordingly, our automated approach to EMG quantification during human sleep recording is practical, feasible, and may provide a much-needed clinical tool for the screening of REM sleep behavior disorder and parkinsonism.

scholarly journals Sweet or Bland Dreams? Taste Loss in Isolated REM ‐Sleep Behavior Disorder and Parkinson's Disease

2021 ◽  
Author(s):  
Milan Nigam ◽  
Ines Ayadi ◽  
Camille Noiray ◽  
Ana Catarina Branquino‐Bras ◽  
Erika Herraez Sanchez ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Sleep Behavior

scholarly journals Motor Dysfunction in REM Sleep Behavior Disorder: A Rehabilitation Framework for Prodromal Synucleinopathy

2021 ◽  
pp. 154596832110112
Author(s):  
Rebekah L. S. Summers ◽  
Miriam R. Rafferty ◽  
Michael J. Howell ◽  
Colum D. MacKinnon
Keyword(s):  
Rem Sleep ◽  
Motor System ◽  
Clinical Care ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Motor Dysfunction ◽  
Motor Deficits ◽  
Sleep Behavior ◽  
Early Exercise ◽  
Extrapyramidal Signs

Parkinson disease (PD) and other related diseases with α-synuclein pathology are associated with a long prodromal or preclinical stage of disease. Predictive models based on diagnosis of idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) make it possible to identify people in the prodromal stage of synucleinopathy who have a high probability of future disease and provide an opportunity to implement neuroprotective therapies. However, rehabilitation providers may be unaware of iRBD and the motor abnormalities that indicate early motor system dysfunction related to α-synuclein pathology. Furthermore, there is no existing rehabilitation framework to guide early interventions for people with iRBD. The purpose of this work is to (1) review extrapyramidal signs of motor system dysfunction in people with iRBD and (2) propose a framework for early protective or preventive therapies in prodromal synucleinopathy using iRBD as a predictive marker. Longitudinal and cross-sectional studies indicate that the earliest emerging motor deficits in iRBD are bradykinesia, deficits performing activities of daily living, and abnormalities in speech, gait, and posture. These deficits may emerge up to 12 years before a diagnosis of synucleinopathy. The proposed rehabilitation framework for iRBD includes early exercise-based interventions of aerobic exercise, progressive resistance training, and multimodal exercise with rehabilitation consultations to address exercise prescription, progression, and monitoring. This rehabilitation framework may be used to implement neuroprotective, multidisciplinary, and proactive clinical care in people with a high likelihood of conversion to PD, dementia with Lewy bodies, or multiple systems atrophy.

scholarly journals Probable REM sleep behavior disorder is associated with longitudinal cortical thinning in Parkinson’s disease

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Eun Jin Yoon ◽  
Oury Monchi
Keyword(s):  
Parkinson’S Disease ◽  
Caudate Nucleus ◽  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Volume Changes ◽  
Sleep Behavior ◽  
Left Caudate ◽  
Left Insula ◽  
Subcortical Volume

AbstractREM sleep behavior disorder (RBD) has a poor prognostic implication in both motor and non-motor functions in Parkinson’s disease (PD) patients. However, to the best of our knowledge no study to date investigated the longitudinal cerebral changes underlying RBD symptoms in PD. We performed the longitudinal study to investigate the association between probable RBD and cortical and subcortical changes in early, de novo PD patients. We studied 78 participants from the Parkinson’s Progression Marker Initiative who underwent structural MRI at baseline and after 2 years. The presence of probable RBD (pRBD) was evaluated using the RBD screening questionnaire. We compared the cross-sectional and longitudinal cortical thickness and subcortical volume changes, between PD patients with and without pRBD. At baseline, we found bilateral inferior temporal cortex thinning in the PD-pRBD group compared with the PD-noRBD group. Longitudinally, the PD-pRBD group revealed a significant increase in the rate of thinning in the left insula compared with the PD-noRBD group, and the increased thinning correlated with decreased cognitive performance. In subcortical volume analyses, the presence of pRBD was linked with volume decrease over time in the left caudate nucleus, pallidum and amygdala. The volume changes in the left caudate nucleus revealed correlations with global cognition. These results support the idea that RBD is an important marker of rapid progression in PD motor and non-motor symptoms and suggest that the atrophy in the left insula and caudate nucleus might be the underlying neurobiological mechanisms of the poorer prognosis in PD patients with RBD.

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