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Hyperechogenicity of the substan- tia nigra visualized by transcranial sonography occurs in most Parkinson's disease (PD) patients. Idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) subjects eventually develop PD and other synucleinopa- thies. This study was undertaken to evaluate whether in IRBD, transcranial sonography identifies subjects who convert to PD and other synucleinopathies, and whether substantia nigra echogenic size changes with time. It was a prospective study in which 55 IRBD patients underwent transcranial sonography at baseline and were invited to follow-up after 5 years. Patients were assessed by the same experienced sonographer who was blinded to clinical data and baseline transcra- nial sonography results, and used the same equipment and adjustments. Twenty-one (38.2%) subjects were diagnosed with a synucleinopathy (PD in 11, dementia with Lewy bodies in nine, and multiple system atrophy in one). Sensitivity of baseline substantia nigra hypere- chogenicity for the development of a synucleinopathy was 42.1%, specificity 67.7%, positive predictive value 44.4%, negative predictive value 65.6%, and relative risk 1.29. No differences were detected between the first and second examination in mean size of the sub- stantia nigra (0.20 6 0.09 cm 2 vs. 0.19 6 0.07 cm 2 ; P 5 0.777) and in percentage of patients with substantia nigra hyperechogenicity (33.3% vs. 42.8%, P 5 0.125). Transcranial sonography of the substantia nigra alone is not a useful tool to identify IRBD subjects at risk for the development of PD or a synucleinopathy after 5 years of follow-up. In IRBD, transcranial sonography cannot be used to monitor the degenerative process in the substantia nigra, because echogenicity size remains stable over time. V C 2014 International Parkinson and Movement Disorder Society

Background Current evidence suggests that there is a prodromal stage in Parkinson disease characterized by a variety of nonmotor symptoms. Methods and Results A 69-year-old man presented to our sleep center with isolated rapid eye movement sleep behavior disorder. During a 10-year follow-up period, longitudinal clinical and laboratory assessments indicated the development of hyposmia, depression, mild cognitive impairment, and constipation. Parkinsonism was absent, but dopamine transporter imaging showed subclinical substantia nigra damage. Postmortem examination demonstrated neuronal loss and Lewy body pathology in the peripheral autonomic nervous system (eg, cardiac and myenteric plexus), olfactory bulb, medulla, pons, substantia nigra pars compacta (estimated cell loss, 20%-30%), nucleus basalis of Meynert, and amygdala, sparing the neocortex. Conclusions Our observations indicate that nonmotor symptoms plus widespread peripheral and central nervous system pathological changes occur before parkinsonism and dementia onset in diseases associated with Lewy pathology. The current diagnostic criteria for Parkinson's disease miss these patients, who present only with nonmotor symptoms. © 2014 International Parkinson and Movement Disorder Society

REM sleep behavior disorder (RBD) is a parasomnia characterized by dream-enactment behavior, diagnosed by clinical history in combination with video-polysomnography to document REM atonia loss. Idiopathic RBD (iRBD) is receiving increased attention as an important risk factor for neurodegenerative diseases, especially alpha-synucleinopathies.2–4 Despite increasing recognition of its importance, knowledge of RBD epidemiology is limited. Except for two studies, which primarily screened for sleep injury (a subtype of RBD)5,6 no large-scale epidemiologic surveys have estimated RBD prevalence. A major barrier to conducting prevalence studies is that RBD is probably uncommon, thus requiring very large epidemiologic surveys. Such large surveys are generally broad, assessing many nonsleep outcomes, with strict limitations upon the time demands upon respondents. This precludes the use of polysomnographic diagnosis and lengthy screening questionnaires. Therefore, simple (i.e., one- or two-question) screens are needed to assess RBD in large-scale epidemiologic surveys. To meet this need, we designed the RBD Single-Question Screen (RBD1Q) a single “yes-no” question that queries the classic dream-enactment behavior of RBD. We present here the validation results of this question, in relation to gold-standard polysomnographic diagnosis, in a 12-center case-control study.

There is a broad spectrum of sleep disturbances observed in Parkinson's disease (PD). A variety of scales have been applied to the evaluation of PD sleep and wakefulness, but only a small number have been assessed specifically for clinimetric properties in the PD population. The movement disorder society has commissioned this task force to examine these scales and to assess their use in PD. A systematic literature review was conducted to explore the use of sleep scales in PD and to determine which scales qualified for a detailed critique. The task force members, all of whom have extensive experience in assessing sleep in PD reviewed each of the scales using a structured proforma. Scales were categorized into recommended, suggested and listed according to predefined criteria. A total of 48 potential scales were identified from the search and reviewed. Twenty-nine were excluded because they did not meet review criteria or were variations of scales already included, leaving 19 scales that were critiqued and rated by the task force based on the rating criteria. Only six were found to meet criteria for recommendation or suggestion by the task force: the PD sleep scale (PDSS) and the Pittsburgh sleep quality index (PSQI) are recommended for rating overall sleep problems to screen and to measure severity, the SCOPA-sleep (SCOPA) is recommended for rating overall sleep problems both to screen and to measure severity, and for rating daytime sleepiness; the Epworth sleepiness scale (ESS) is recommended for rating daytime sleepiness to screen and to measure severity; the inappropriate sleep composite score (ISCS) is suggested for rating severe daytime sleepiness or sleep attacks to screen and to measure severity; and the Stanford sleepiness scale (SSS) is suggested for rating sleepiness and to measure severity at a specific moment. The task force does not recommend the development of new scales, but emphasizes the need for educational efforts to train physicians in sleep interview techniques and polysomnography.

Recent studies have reported an increased risk to develop Parkinson's disease (PD) in patients with idiopathic RBD (iRBD). Midbrain hyperechogenicity is a common transcranial sonography (TCS) finding in PD and has been suggested as a PD risk-marker in nonparkinsonian subjects. The objective of this study is to assess midbrain echogenicity by TCS in patients with iRBD and compare the findings with the healthy controls. TCS was performed in 55 iRBD patients and in 165 age and sex-matched controls. The area of echogenicity in the SN region in the iRBD group was significantly increased compared with the control group (P < 0.001). About 19 (37.3%) of patients with iRBD were found to have SN hyperechogenicity when compared with 16 (10.7%) of the controls (P < 0.001). This is the first case-control study assessing midbrain echogenicity in a large iRBD cohort compared to age- and sex-matched healthy individuals. The finding of an increased prevalence of hyperechogenicity in a subgroup of individuals with a priori increased risk for PD supports the potential role of hyperechogenicity as a risk marker for PD. The prospective follow-up of this iRBD cohort is needed to establish if those with midbrain hyperechogenicity will go on to develop clinically defined PD or not.

The pathophysiology of restless legs syndrome (RLS) is associated with central dopaminergic system dysfunction leading to speculations that RLS may be common in those neurodegenerative diseases with dopaminergic cell loss. However, since RLS is a very common condition, the co-occurrence with less frequent disorders such as the neurodegenerative diseases might be a matter of chance. Currently, no data suggests that patients with sporadic and familial RLS are at increased risk for developing a neurodegenerative disease. In particular, whether RLS is associated with Parkinson's disease has not been established. Only a few studies have directly addressed this issue, and these have methodological limitations yielding conflicting results. Few studies have assessed the frequency of RLS in other neurodegenerative disorders. In several autosomal dominant spinocerebellar ataxias, particularly in Machado-Joseph disease, a higher frequency of RLS is reported than could be accounted for in the general population. Two anecdotal publications have reported the presence of RLS in patients with Huntington's disease and hereditary spastic paraparesis. There are no studies that have examined the association between RLS and other neurodegenerative diseases, such as Alzheimer's disease, frontotemporal dementia, dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration. .

We evaluated the occurrence of REM sleep behaviour disorder (RBD) and vocal cord abductor paralysis (VCAP) in a group of 9 Machado-Joseph disease (MJD) patients. RBD was diagnosed by clinical history plus audiovisual polysomnography in 4 men and 1 woman (55%). While dreaming, 4 fell out of the bed and the other injured his arms. Laryngoscopy detected bilateral VCAP in 1 patient with stridor who required emergency tracheotomy, and partial vocal cord abductor restriction in 2. RBD and VCAP are two potentially injurious conditions that should be considered part of the clinical spectrum of MJD.

Hypocretin (orexin) cerebrospinal fluid (CSF) levels have been previously found normal or decreased in Dementia with Lewy bodies and Parkinson disease, two synucleinopathies commonly associated with excessive daytime sleepiness (EDS). We evaluated CSF hypocretin-1 levels in 15 patients with moderately severe multiple system atrophy (MSA), another synucleinopathy where sleep disorders occur frequently and EDS has been reported, performing additional electrophysiological studies in 5 of them to assess the presence of EDS and sleep onset REM (SOREM) periods. Despite relatively low sleep efficiencies in nocturnal sleep, mean sleep latencies in the Multiple Sleep Latency Test were normal with no SOREM periods. All patients had CSF hypocretin-1 levels in the normal range (>200 pg/mL) suggesting that the hypocretin system is not altered in MSA, at least in patients with a moderately severe disease.