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REM sleep behavior disorder (RBD) is characterized by a loss of atonia of skeletal muscles during REM sleep, associated with acting out behaviors during dreams. Knowledge of this pathology is important to predict neurodegenerative diseases since there is a strong association of RBD with diseases caused by the deposition of alpha-synuclein in neurons (synucleinopathies), such as Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB). Proper diagnosis of this condition will enable the use of future neuroprotective strategies before motor and cognitive symptoms. Diagnostic assessment should begin with a detailed clinical history with the patient and bed partner or roommate and the examination of any recorded home videos. Polysomnography (PSG) is necessary to verify the loss of sleep atonia and, when documented, the behaviors during sleep. Technical recommendations for PSG acquisition and analysis are defined in the AASM Manual for the scoring of sleep and associated events, and the PSG report should describe the percentage of REM sleep epochs that meet the criteria for RWA (REM without atonia) to better distinguish patients with and without RBD. Additionally, PSG helps rule out conditions that may mimic RBD, such as obstructive sleep apnea, non-REM sleep parasomnias, nocturnal epileptic seizures, periodic limb movements, and psychiatric disorders. Treatment of RBD involves guidance on protecting the environment and avoiding injuries to the patient and bed partner/roommate. Use of medications are also reviewed in the article. The development of neuroprotective medications will be crucial for future RBD therapy.

O transtorno comportamental do sono REM (TCSREM) é caracterizado por uma perda de atonia dos músculos esqueléticos durante o sono REM, associada a comportamentos de atuação durante os sonhos. O conhecimento desse transtorno é importante como preditor de doenças neurodegenerativas, uma vez que existe uma forte associação de TCSREM com doenças causadas pela deposição de alfa-sinucleína nos neurônios, como a doença de Parkinson (DP), atrofia de múltiplos sistemas (MSA) e demência com corpos de Lewy (DLB). O diagnóstico adequado dessa condição permitirá o uso de futuras estratégias neuroprotetoras antes do aparecimento dos sintomas motores e cognitivos. A avaliação diagnóstica deve começar com uma história clínica detalhada com o paciente e acompanhante, além de exame de vídeos. A polissonografia (PSG) é necessária para verificar a perda da atonia do sono e, quando documentados, os comportamentos durante o sono. As recomendações técnicas para aquisição e análise de PSG são definidas no Manual da AASM (Scoring of sleep and associated events) e o relatório de PSG deve descrever a porcentagem de períodos de sono REM que atendem aos critérios para REM sem atonia. Além disso, a PSG ajuda a descartar condições que podem mimetizar o TCSREM, como apneia obstrutiva do sono, parassonias do sono não REM, crises epilépticas noturnas, movimentos periódicos dos membros e transtornos psiquiátricos. O tratamento do TCSREM envolve orientações sobre adaptações do ambiente para evitar lesões ao paciente e ao colega de quarto. Medicamentos utilizados são revistos no artigo, assim como o crucial desenvolvimento de medicamentos neuroprotetores.

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INTRODUCTION: Nonspecific areas of brain white matter hyperintensity (WMH) are commonly found in the elderly. Some studies have shown that the presence, quantity, and location of WMHs may be associated with the development of cognitive and motor decline in patients with Parkinson's disease (PD), but the results remain controversial. This study aimed to evaluate the relationship of WMH to motor and non-motor symptoms, including dysautonomia and rapid eye movement sleep behavior disorder (RBD), in patients with PD. METHODS: Brain magnetic resonance images were acquired from 120 patients diagnosed with PD and analyzed for WMH classification and quantification. Motor symptoms were quantified using sub-scores of the Movement Disorder Society-Unified Parkinson Disease Rating Scale (MDS-UPDRS)-III. Dysautonomia was evaluated by autonomic reactivity tests, and polysomnography was used for the diagnosis of RBD. RESULTS: Age, total value of the MDS-UPDRS-III tremor sub-score, and the presence of dysautonomia were found to be linearly positively associated. Specifically, the duration of PD was positively associated with rigidity, bradykinesia, axial symptoms, prevalence of dysautonomia, and RBD sub-scores. However, in the multivariate analysis adjusted for variables of interest, no statistical significance was found for any of the models. CONCLUSION: The presence, quantity, and location of WMH were not associated with the analyzed motor and non-motor manifestations of PD.

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Background: Cannabidiol (CBD) is one of the main nonpsychoactive components of Cannabis sativa and may represent an alternative treatment for Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) in patients with Parkinson's disease (PD) and REM (Rapid Eye Movement) sleep behavior disorder (RBD). Objective: Our purpose was a post hoc exploratory analysis to evaluate the CBD's efficacy to improve the severity of RLS/WED symptoms in patients with PD and RBD. Methods: A post hoc exploratory analysis of a phase II/III, a parallel, double-blind, placebo-controlled clinical trial was conducted in 18 patients with RLS/WED and PD plus RBD associated. Six patients were randomized to the CBD group in doses of 75-300 mg, and twelve received placebo capsules. They were followed up for 14 weeks. The primary outcome was the severity of RLS/WED by Restless Legs Syndrome Rating Scale of the International Restless Legs Syndrome Study Group (IRLSSG). Results: CBD showed no difference in relationship to placebo for primary and secondary outcomes. Conclusion: CBD showed no reduction in the severity of RLS/WED manifestation in patients with PD and RBD.

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BACKGROUND: Parkinson's disease (PD) patients experience non-motor symptoms (NMS), which may appear before motor manifestations. The most common NMS is depression, affecting about 30-40% of PD patients. Both PD and depression are associated with an increased inflammatory burden, with studies showing elevation of diverse inflammatory markers in patients with both conditions. METHODS: A systematic review was conducted in PubMed and PsycINFO databases to investigate what inflammatory markers are associated with PD depression (PDD). Only studies in English that measured inflammatory markers and analyzed against depression scores in PD patients were included. RESULTS: A total of 1132 articles were retrieved, and 14 entries were found to be eligible. Twelve were cross-sectional studies, one was a cohort, and one was a non-randomized controlled trial. IL-17A was the only marker strongly associated with PDD, while studies assessing sIL-2R and serum amyloid A found a moderate correlation. C-reactive protein, IL-10, tumor necrosis factor-α, monocyte chemoattractant protein-1, and IL-6 yielded conflicting results. Their possible roles in PDD are discussed. PDD was also related to longer disease duration and other NMS, such as anxiety, fatigue, dementia, REM sleep behavior disorder, and autonomic dysfunction. CONCLUSION: We suggest that these markers may be used for distinguishing isolated depression from that related to neurodegeneration, especially in individuals that concurrently present with other known prodromal symptoms of PD and other α-synucleinopathies. However, future prospective studies are warranted to confirm this hypothesis.

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STUDY OBJECTIVES: Our aim is to evaluate the presence of REM sleep without atonia (RWA), the objective hallmark of REM sleep Behaviour Disorder (RBD), as prodromal marker of Parkinson's disease (PD), in an adult cohort of 22q11.2 deletion syndrome (22qDS). METHODS: Sleep quality was assessed by means of Pittsburgh quality scale index (PSQI), and RBD symptoms by means of RBD questionnaire-Hong-Kong (RBDQ-HK). Attended domiciliary video-Polysomnography (v-PSG) were performed in 26 adults (18-51 years, 14 females) 22qDS patients. Electromyogram during REM sleep was analyzed by means of SINBAR procedure at 3-second time resolution (miniepochs). RESULTS: An overall poor sleep quality was observed in the cohort and high RBDQ-HK score in 7 of the 26 patients, two additional patients with positive dream enactment reported by close relatives had low score of RBDQ-HK. Nevertheless, SINBAR RWA scores were lower than cut-off threshold for RWA (mean 5.5%, range 0-12.2%). TST and the percentage of light sleep (N1) were increased, with preserved proportions of N2 and N3. Participants reported poor quality of sleep (mean PSQI > 5), with prolonged sleep latency in the v-PSG. No subjects exhibit evident dream enactment episodes during recording sessions. CONCLUSIONS: RWA was absent in the studied cohort of 22qDS adult volunteers according to validated polysomnographic criteria. High RBDQ-HK scores do not correlate with v-PSG results among 22qDS individuals.

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Parasomnias are involuntary behaviors or subjective experiences during sleep. Our objective was to review existing information on the presence of parasomnias in patients with addictions or during treatment for addictions. Information about parasomnias related to rapid-eye-movement (REM) and non-REM sleep in patients with addictions, while using substances or in abstinence, was reviewed. A systematic search of published articles reporting parasomnias as a consequence of drug use or abuse was conducted in the PubMed and SciELO databases. The search for the studies was performed in three phases: (1) by title, (2) by abstract, and (3) by complete text. The search was performed independently by two researchers, who then compared their results from each screening phase. Seventeen articles were found. The consumption of alcohol was reported in association with arousal disorders, such as sexsomnia and sleep-related eating disorder; and REM sleep behavior disorder was reported during alcohol withdrawal. Cocaine abuse was associated with REM sleep behavior disorder with drug consumption dream content. Overall, we found that several types of parasomnias were very frequent in patients with addictions. To avoid accidents in bedroom, legal problems, and improve evolution and prognosis; must be mandatory to include security measures related to sleep period; avoid pharmacological therapy described as potential trigger factor; improve sleep hygiene; and give pharmacological and behavioral treatments for patients with these comorbid sleep disorders.

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Quadruple aberrant hyperphosphorylated tau (p-τ), amyloid-ß peptide, alpha-synuclein and TDP-43 brainstem and supratentorial pathology are documented in forensic ≤40y autopsies in Metropolitan Mexico City (MMC), and p-τ is the major aberrant protein. Post-traumatic stress disorder (PTSD) is associated with an elevated risk of subsequent dementia, and rapid eye movement sleep behavior disorder (RBD) is documented in PD, AD, Lewy body dementia and ALS. This study aimed to identify an association between PTSD and potential pRBD in Mexico. An anonymous online survey of 4502 urban college-educated adults, 29.3 ± 10.3 years; MMC, n = 1865; non-MMC, n = 2637, measured PTSD symptoms using the Impact of Event Scale-Revised (IES-R) and pRBD symptoms using the RBD Single-Question. Over 50% of the participants had IES-R scores ≥33 indicating probable PTSD. pRBD was identified in 22.6% of the participants across Mexico and 32.7% in MMC residents with PTSD. MMC subjects with PTSD had an OR 2.6218 [2.5348, 2.7117] of answering yes to the pRBD. PTSD and pRBD were more common in women. This study showed an association between PTSD and pRBD, strengthening the possibility of a connection with misfolded proteinopathies in young urbanites. We need to confirm the RBD diagnosis using an overnight polysomnogram. Mexican women are at high risk for stress and sleep disorders.

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Parkinson's disease (PD) has heterogeneous clinical manifestations and prognoses. It is accompanied by a group of motor and non-motor symptoms ranging from independence to total disability, limiting work and personal care activities. Currently, disease subtype markers for informing prognosis remain elusive. However, some studies have reported an association between rapid eye movement (REM) sleep behavior disorder (RBD) and faster motor and non-motor symptom progression, including autonomic dysfunction and cognitive decline. Moreover, since autonomic dysfunction has been described in idiopathic forms of RBD, and they share some central regulatory pathways, it remains unclear whether they have a primary association or if they are more severe in patients with PD and RBD, and thus are a disease subtype marker. This article aimed at critically reviewing the literature on the controversies about the prevalence of RBD in PD, the higher incidence of PD non-motor symptoms associated with RBD, the evidence of faster motor worsening in parkinsonian patients with this parasomnia, and the main pathophysiological hypotheses that support these findings.

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BACKGROUND: REM sleep behaviour disorder (RBD) is a common non-motor feature of Parkinson's disease (PD). Cannabidiol (CBD) is one of the main non-psychoactive components of Cannabis sativa and may represent an alternative route for treating RBD. OBJECTIVE: This study assessed the efficacy and safety of CBD for RBD in PD. METHODS: We conducted a phase II/III, double-blind, placebo-controlled clinical trial in 33 patients with RBD and PD. Patients were randomized 1:1 to CBD in doses of 75 to 300mg or matched capsules placebo and were followed up for 14 weeks. The primary outcomes were the frequency of nights with RBD, CGI-I, and CGI-S. RESULTS: CBD showed no difference to placebo for primary outcomes. Regarding secondary outcomes, we observed a significant improvement in average sleep satisfaction from the 4th to 8th week in the CBD versus placebo group with P = 0.049 and P = 0.038, respectively. CONCLUSION: CBD, as an adjunct therapy, showed no reduction in RBD manifestations in PD patients. A transient improvement in sleep satisfaction with a dose of 300mg has been noted. © 2021 International Parkinson and Movement Disorder Society.

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ABSTRACT Parkinson's disease (PD) has heterogeneous clinical manifestations and prognoses. It is accompanied by a group of motor and non-motor symptoms ranging from independence to total disability, limiting work and personal care activities. Currently, disease subtype markers for informing prognosis remain elusive. However, some studies have reported an association between rapid eye movement (REM) sleep behavior disorder (RBD) and faster motor and non-motor symptom progression, including autonomic dysfunction and cognitive decline. Moreover, since autonomic dysfunction has been described in idiopathic forms of RBD, and they share some central regulatory pathways, it remains unclear whether they have a primary association or if they are more severe in patients with PD and RBD, and thus are a disease subtype marker. This article aimed at critically reviewing the literature on the controversies about the prevalence of RBD in PD, the higher incidence of PD non-motor symptoms associated with RBD, the evidence of faster motor worsening in parkinsonian patients with this parasomnia, and the main pathophysiological hypotheses that support these findings.

RESUMO A doença de Parkinson (DP) apresenta variadas manifestações clínicas e distintos prognósticos. É caracterizada por um conjunto de sintomas motores e não motores que podem variar desde um quadro de independência até a completa incapacidade laborativa e de cuidados pessoais. Até o momento, não está claro quais seriam os marcadores de subtipos da doença que poderiam alertar para formas de prognóstico. Porém existem alguns estudos que mostram que a presença do transtorno comportamental do sono REM pode estar associada à progressão mais rápida dos sintomas motores e não motores, como disfunção autonômica e declínio cognitivo. Questiona-se ainda se a disautonomia está primariamente associada ao transtorno do sono REM, já que são relatadas nas formas idiopáticas deste transtorno de sono e compartilham alguns núcleos reguladores centrais. Ou se são mais graves nos pacientes com diagnóstico de DP e transtorno comportamental do sono REM, marcando assim um subtipo da doença. Esta revisão teve como objetivo revisar criticamente os principais estudos publicados envolvendo as controvérsias sobre a prevalência do transtorno comportamental do sono REM na DP, a maior incidência de sintomas não motores da DP associados ao transtorno do sono REM, as evidências de piora motora mais rápida nos pacientes parkinsonianos que apresentam este transtorno do sono e as principais hipóteses fisiopatológicas que justificam esses achados.

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INTRODUCTION: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful. OBJECTIVE: To validate the Brazilian Portuguese version of RBD screening questionnaire (RBDSQ) for patients with Parkinson's disease (PD). METHODS: Using detailed clinical interviews and PSG analysis (diagnostic gold standard), a convenience sample of 69 subjects was divided into the following subgroups: patients with PD and RBD (PD+RBD; n=50) and patients with PD alone (PD-RBD; n=19). RESULTS: RBDSQ-BR showed adequate internal consistency (Cronbach's α=0.809) and, except for item 8, adequate item-test correlation. The retest performed in a second sample (n=13, consecutive) showed high agreement for total score (intraclass correlation coefficient, ICC=0.863) and acceptable agreement for items 2, 3, 6.2, 6.3, 7, and 8 (K>0.60). The receiver operating characteristic (ROC) curve analysis had an area under the curve (AUC) of 0.728. A cut-off score of 4 enabled the correct diagnosis of 76.8% subjects and provided the best balance between sensitivity (84%) and specificity (57.9%), with a 2.0 likelihood ratio of a positive result (LR+) and a 0.3 likelihood ratio of a negative result (LR-). Items 2 and 6.2 had 84.2% specificity and 3.2 LR+. Combined items 1+2+6.2, 2+6.1, and 6.1+6.2 increased the specificity to 94.7%, with LR+ ranging from 6.1 to 7.6. CONCLUSIONS: RBDSQ-BR is a reliable instrument, which may be useful for RBD diagnosis of Brazilian patients with PD. The instrument is also valid and may help in a better selection of cases for a more detailed clinical evaluation or even PSG analysis.

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ABSTRACT Introduction: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful. Objective: To validate the Brazilian Portuguese version of RBD screening questionnaire (RBDSQ) for patients with Parkinson's disease (PD). Methods: Using detailed clinical interviews and PSG analysis (diagnostic gold standard), a convenience sample of 69 subjects was divided into the following subgroups: patients with PD and RBD (PD+RBD; n=50) and patients with PD alone (PD-RBD; n=19). Results: RBDSQ-BR showed adequate internal consistency (Cronbach's α=0.809) and, except for item 8, adequate item-test correlation. The retest performed in a second sample (n=13, consecutive) showed high agreement for total score (intraclass correlation coefficient, ICC=0.863) and acceptable agreement for items 2, 3, 6.2, 6.3, 7, and 8 (K>0.60). The receiver operating characteristic (ROC) curve analysis had an area under the curve (AUC) of 0.728. A cut-off score of 4 enabled the correct diagnosis of 76.8% subjects and provided the best balance between sensitivity (84%) and specificity (57.9%), with a 2.0 likelihood ratio of a positive result (LR+) and a 0.3 likelihood ratio of a negative result (LR-). Items 2 and 6.2 had 84.2% specificity and 3.2 LR+. Combined items 1+2+6.2, 2+6.1, and 6.1+6.2 increased the specificity to 94.7%, with LR+ ranging from 6.1 to 7.6. Conclusions: RBDSQ-BR is a reliable instrument, which may be useful for RBD diagnosis of Brazilian patients with PD. The instrument is also valid and may help in a better selection of cases for a more detailed clinical evaluation or even PSG analysis.

RESUMO Introdução: O diagnóstico do transtorno comportamental do sono REM (TCSREM) implica na realização da polissonografia (PSG), mas sua disponibilidade pode não ser suficiente. Portanto, meios clínicos para o diagnóstico podem ser úteis. Objetivo: Validar para a língua portuguesa falada no Brasil o questionário de triagem do TCSREM (QT-TCSREM) em pacientes portadores de doença de Parkinson (DP). Métodos: Uma amostra por conveniência composta de 69 indivíduos foi dividida em portadores de DP com TCSREM (n=50) e DP sem TCSREM (n=19) através de entrevista clínica detalhada e análise da PSG. Resultados: QT-TCSREM-BR apresentou consistência interna adequada (α de Cronbach=0,809) e, exceto pelo item 8, correlação item-total adequada. Reteste feito em uma segunda amostra (n=13, consecutivos) evidenciou concordância elevada para o escore total (coeficiente de correlação intraclasse, CCI=0,863) e aceitável para os itens 2, 3, 6.2, 6.3, 7 e 8 (K>0,60). Análise da curva característica de operação do receptor (COR) obteve uma área sob a curva de 0,728. O corte 4 permitiu o diagnóstico correto de 76,8% dos indivíduos e apresentou o melhor equilíbrio entre sensibilidade (84%) e especificidade (57,9%), com uma razão de verossimilhança de um resultado positivo (RV+) 2,0 e de um resultado negativo (RV-) 0,3. Os itens 2 e 6.2 obtiveram especificidade 84,2% e RV+ 3,2. Itens combinados 1+2+6,2, 2+6,1 e 6,1+6,2 aumentaram a especificidade para 94,7%, com RV+ variando de 6,1 até 7,6. Conclusões: O QT-TCSREM-BR é um instrumento confiável que pode ser útil para o diagnóstico do TCSREM em pacientes com DP no Brasil. O instrumento também é válido e pode auxiliar numa melhor seleção de casos a serem submetidos a uma avaliação mais detalhada ou até mesmo a uma análise de PSG.

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Dreaming is the result of the mental activity of rapid eye movement (REM) sleep stage, and less commonly of non-REM sleep. Dreams offer unique insights into the patients' brains, minds, and emotions. Based on neurophysiological and neuroimaging studies, the biological core of dreaming stands on some brain areas activated or inactivated. Dream abnormalities in neurological disorders include a reduction / cessation of dreaming, an increase in dream frequency, changes in dream contents and accompaniments, and the occurrence of dreamlike experiences (hallucinations) mainly during the wake-sleep/sleep-wake transitions. Dream changes can be associated with several neurological conditions, and the unfolding of biological knowledge about dream experiences can also have significance in clinical practice. Regarding the dream importance in clinical neurological management, the aim of this paper encompasses a summary of sleep stages, dreams neurobiology including brain areas involved in the dreams, memory, and dreams, besides Dreams in the aging people and neurodegenerative disorders.

Sonhar é o resultado da atividade mental do estágio do sono de movimento rápido dos olhos (REM) e, menos comumente, do sono não-REM. Os sonhos oferecem informações únicas sobre o cérebro, a mente e as emoções dos pacientes. Com base em estudos neurofisiológicos e de neuroimagem, o núcleo biológico do sonho está em algumas áreas do cérebro ativadas ou inativadas. As anormalidades do sonho nos distúrbios neurológicos incluem uma redução / cessação do sonho, um aumento na frequência do sonho, alterações nos conteúdos e acompanhamentos do sonho e a ocorrência de experiências semelhantes ao sonho (alucinações), principalmente durante as transições de vigília-sono / sono-vigília. As mudanças do sonho podem estar associadas a várias condições neurológicas, e o desenvolvimento do conhecimento biológico sobre as experiências do sonho também pode ter significado na prática clínica. Com relação à importância do sonho no manejo neurológico clínico, o objetivo deste artigo é resumir os estágios do sono, a neurobiologia dos sonhos, incluindo as áreas do cérebro envolvidas nos sonhos, a memória e os sonhos, além dos sonhos nos idosos e nos distúrbios neurodegenerativos.

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Dijkstra and collaborators provide interesting and important issue in clinical research addressing REM sleep without atonia as a possible prodromal marker for Lewy body disease, an early finding in Parkinson's disease. Though prodromal studies are relevant, it is also mandatory to consider the causes of mortality of Parkinson's disease once it is stablished, such as Sudden Unexpected Death in Parkinson's Disease.

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PURPOSE OF REVIEW: The molecular imaging field has been very instrumental in identifying the multiple network interactions that compose the human brain. The cerebral glucose metabolism is associated with neural function. 18F-fluoro-deoxyglucose-PET (FDG-PET) studies reflect brain metabolism in a pattern-specific manner. This article reviews FDG-PET studies in Parkinson's disease (PD), atypical parkinsonism (AP), Huntington's disease (HD), and dystonia. RECENT FINDINGS: The metabolic pattern of PD, disease progression, non-motor symptoms such as fatigue, depression, apathy, impulse control disorders, and cognitive impairment, and the risk of progression to dementia have been identified with FDG-PET studies. In prodromal PD, the REM sleep behavior disorder-related covariance pattern has been described. In AP, FDG-PET studies have demonstrated to be superior to D2/D3 SPECT in differentiating PD from AP. The metabolic patterns of HD and dystonia have also been described. FDG-PET studies are an excellent tool to identify patterns of brain metabolism.

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PURPOSE OF REVIEW: In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological mechanisms. RECENT FINDINGS: Several pathological studies have demonstrated that the degenerative process in patients with hereditary ataxias may involve not only the cerebellum, but also other areas of the nervous system, and explain noncerebellar symptoms, such as sleep disorders. Hereditary ataxias are neurodegenerative disorders with heterogeneous genetic and clinical presentation. This group of diseases usually affects other areas of the nervous system, besides the cerebellum, and noncerebellar signs and symptoms may occur, such as sleep disorders. The main sleep disorders related to hereditary ataxias include REM sleep behavior disorder, insomnia, excessive daytime sleepiness, obstructive and central sleep apnea, periodic leg movement in sleep, and restless legs syndrome.

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BACKGROUND: Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposmia, rapid eye movement (REM) sleep behavior disorder, constipation, cognitive impairment, and depression. Population studies have identified mutations in GBA1 as the main risk factor for idiopathic PD. The present study sought to evaluate the prevalence of NMS in a cohort of patients with GD type 1 from Southern Brazil. METHODOLOGY: This is an observational, cross-sectional study, with a convenience sampling strategy. Cognition was evaluated by the Montreal Cognitive assessment (MoCa), daytime sleepiness by the Epworth Scale, depression by the Beck Inventory, constipation by the Unified Multiple System Atrophy Rating Scale, and REM sleep behavior disorder by the Single-Question Screen; hyposmia by the Sniffin' Sticks. Motor symptoms were assessed with part III of the Unified Parkinson's Disease Rating Scale. All patients were also genotyped for the GBA1 3'-UTR SNP (rs708606). RESULTS: Twenty-three patients (female = 13; on enzyme replacement therapy = 21, substrate reduction therapy = 2) with a mean age of 41.45 ± 15.3 years (range, 22-67) were included. Eight patients were found to be heterozygous for the 3'-UTR SNP (rs708606). Fourteen patients (8 over age 40 years) presented at least one NMS; daytime sleepiness was the most frequent (n = 10). Two patients (aged 63 and 64, respectively) also presented motor symptoms, probably drug-related. CONCLUSIONS: NMS were prevalent in this cohort. We highlight the importance of a multidisciplinary follow-up focusing on earlier diagnosis of PD, especially for patients with GD type 1 over the age of 40.

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