scholarly journals Predicting alpha-synuclein pathology by REM sleep behavior disorder diagnosis

2018 ◽  
Vol 55 ◽  
pp. 92-96 ◽  
Author(s):  
David R. Shprecher ◽  
Charles H. Adler ◽  
Nan Zhang ◽  
Joseph G. Hentz ◽  
Geidy E. Serrano ◽  
...  
Keyword(s):  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Alpha Synuclein ◽  
Sleep Behavior

Alpha-synuclein aggregates in the parotid gland of idiopathic REM sleep behavior disorder

2018 ◽  
Vol 52 ◽  
pp. 14-17 ◽  
Author(s):  
Ana Fernández-Arcos ◽  
Isabel Vilaseca ◽  
Iban Aldecoa ◽  
Mónica Serradell ◽  
Eduard Tolosa ◽  
...  
Keyword(s):  
Parotid Gland ◽  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Alpha Synuclein ◽  
Sleep Behavior

Cutaneous Alpha-Synuclein is Correlated with Autonomic Impairment in Isolated REM Sleep Behavior Disorder

SLEEP ◽  
2021 ◽  
Author(s):  
Mitchell G Miglis ◽  
Jennifer Zitser ◽  
Logan Schneider ◽  
Emmanuel During ◽  
Safwan Jaradeh ◽  
...  
Keyword(s):  
Rem Sleep ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Disease Status ◽  
Alpha Synuclein ◽  
Sleep Behavior ◽  
Autonomic Testing ◽  
Olfactory Testing ◽  
Skin Biopsies ◽  
Antidepressant Use

Abstract Study Objectives To define the clinical implications of cutaneous phosphorylated α-synuclein (p-syn) and its association with subjective and objective measures of autonomic impairment and clinical features including antidepressant use in isolated REM sleep behavior disorder (iRBD). Methods Twenty-five iRBD patients had quantified neurological and cognitive examinations, olfactory testing, questionnaires, autonomic function testing, and 3 punch skin biopsies (distal thigh, proximal thigh, neck). Skin biopsies were stained for the pan-axonal marker PGP 9.5 and co-stained with p-syn, and results were compared to 28 patients with Parkinson’s disease (PD) and 18 healthy controls. Equal numbers of iRBD patients on and off antidepressants were recruited. The composite autonomic severity scale (CASS) was calculated for all patients. Results P-syn was detected in 16/25 (64%) of iRBD patients, compared to 27/28 (96%) of PD and 0/18 controls. The presence of p-syn at any biopsy site was correlated with both sympathetic (CASS adrenergic r = 0.6, p < 0.05) and total autonomic impairment (CASS total r = 0.6, p < 0.05) on autonomic reflex testing in iRBD patients. These results were independent of the density of p-syn at each site. There was no correlation between p-syn and antidepressant use. Conclusions In patients with iRBD, the presence of cutaneous p-syn was detected in most patients and was associated with greater autonomic dysfunction on testing. Longitudinal follow-up will aid in defining the predictive role of both skin biopsy and autonomic testing in determining phenoconversion rates and future disease status.

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.

Morbidity, Mortality, and Conversion to Neurodegenerative Diseases in Patients with REM Sleep Behavior Disorder and REM Sleep without Atonia

2021 ◽  
Vol 55 (2) ◽  
pp. 141-153
Author(s):  
Cresta Asah ◽  
Rune Frandsen ◽  
Rikke Ibsen ◽  
Jakob Kjellberg ◽  
Poul Jennum
Keyword(s):  
Neurodegenerative Diseases ◽  
Rem Sleep ◽  
Metabolic Diseases ◽  
Neurodegenerative Disorder ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Alpha Synuclein ◽  
Morbidity Rate ◽  
Sleep Behavior ◽  
Before And After

<b><i>Introduction:</i></b> The underlying pathophysiology of idiopathic REM sleep behavior disorder (iRBD) is not fully understood, although the condition is currently recognized as an early-stage alpha-synuclein disorder. We evaluated the morbidity, mortality, and rate of conversion to a neurodegenerative disorder in a national group of patients. <b><i>Methods:</i></b> All patients in Denmark with a diagnosis of RBD between 2006 and 2013 were identified from the Danish National Patient Registry (NPR) records. We excluded patients who had received a diagnosis of narcolepsy or any of the following neurodegenerative diseases before their diagnosis of RBD: Parkinson’s disease, multiple system atrophy, progressive supranuclear paralysis, Alzheimer’s, and Lewy body dementia. We used randomly chosen controls matched for age, gender, and municipality. <b><i>Results:</i></b> In total, 246 iRBD patients and 982 matched controls were analyzed. The mortality rate was the same in both groups. The morbidity rate was significantly higher in the years before and after an RBD diagnosis, due to a wide variety of disorders in the following major disease groups: mental/behavioral disorders; endocrine/metabolic diseases; diseases of the eye; diseases of the nervous, digestive, musculoskeletal, circulatory, and respiratory systems; abnormal findings not classified elsewhere; external causes; and factors influencing health status. The conversion rate from RBD to a neurodegenerative disease was 13% over the 8 years after a diagnosis of RBD. <b><i>Conclusions:</i></b> A diagnosis of RBD is associated with increased morbidity several years before and after a diagnosis is made. Patients have a higher risk of converting to a neurodegenerative disorder than matched controls. Mortality rates are unchanged.

Acting out Dreams: REM Sleep Behavior Disorder

2013 ◽  
Author(s):  
J. Eric Ahlskog
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Multiple System Atrophy ◽  
Rem Sleep ◽  
Sleep Stage ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Alpha Synuclein ◽  
Sleep Behavior ◽  
The Brain

Normal dreaming occurs during the deepest sleep states. Obviously, if experiencing a frightening dream, sleeping people could be injured if they jumped out of bed and started to run. Fortunately, the brain has a natural protective mechanism during dreaming: body paralysis. During the primary sleep stage in which dreaming occurs, the body’s muscle tone is shut off and muscles become limp. Only the eye muscles are spared, still able to move during a dream. This state in which dreaming takes place is rapid eye movement (REM) sleep. Restated, during REM sleep, a switch is thrown in the brain stem that shuts off body movement during dreaming. People with Lewy disorders of all types often lose this switch function. In other words, they can still move during the dreams of REM sleep. In the midst of a dream, they may act out by yelling, kicking, or hitting the air. This behavior is termed dream enactment behavior. When it is a recurring event it is termed REM sleep behavior disorder. REM sleep behavior disorder occurs in people with Lewy disorders—Parkinson’s disease, DLB, or PDD. It also occurs in another disorder in which alpha-synuclein is abnormally deposited in the nervous system, multiple system atrophy (MSA). Recall from Chapter 2 that alpha-synuclein is present in Lewy bodies and is thought to be a causative factor in all of these conditions. REM sleep behavior disorder may be present years or even decades before the occurrence of DLB, PDD, Parkinson’s disease, or multiple system atrophy. It is often one of the first signs of these disorders, predating most other manifestations. That does not mean that everyone who acts out their dreams will eventually develop Parkinson’s disease, DLB, or MSA. However, it does confer an increased risk. It should be noted that certain medications may provoke REM sleep behavior disorder, such as the commonly used antidepressants. Also, sleepwalking in children should not be confused with this disorder. Sleepwalking occurs in a different sleep stage and is not thought to be a forerunner of Lewy body conditions.

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.

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