REM sleep behavior disorder in a patient with frontotemporal dementia

Coco, Daniele Lo; Cupidi, Chiara; Mattaliano, A.; Baiamonte, Valentina; Realmuto, Sabrina; Cannizzaro, Emanuele

doi:10.1007/s10072-011-0702-5

Cited by 25 publications

(16 citation statements)

References 6 publications

(11 reference statements)

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“…23 No patients with FTD had a history of DEB or met RBD diagnostic cutoffs, providing quantitative evidence for normal REM muscle atonia in FTD, which further substantiates the paucity of RBD in FTD. 14 The lack of RSWA seen in AD/ FTD provides evidence for the selective vulnerability of brainstem nuclei (especially the locus subcoeruleus/sublateral dorsal nucleus) secondary to presumed synuclein aggregation as suggested by the Braak hypothesis. 38 Our study was underpowered to determine RSWA differences between aMCI and naMCI subtypes.…”

Section: Rswa Analysismentioning

confidence: 95%

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REM sleep atonia loss distinguishes synucleinopathy in older adults with cognitive impairment

et al. 2020

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ObjectiveTo determine whether quantitative polysomnographic REM sleep without atonia (RSWA) distinguishes between cognitive impairment phenotypes.BackgroundNeurodegenerative cognitive impairment in older adults predominantly correlates with tauopathy or synucleinopathy. Accurate antemortem phenotypic diagnosis has important prognostic and treatment implications; additional clinical tools might distinguish between dementia syndromes.MethodsWe quantitatively analyzed RSWA in 61 older adults who underwent polysomnography including 46 with cognitive impairment (20 probable synucleinopathy), 26 probable non-synucleinopathy (15 probable Alzheimer disease, 11 frontotemporal lobar dementia), and 15 age- and sex-matched controls. Submentalis and anterior tibialis RSWA metrics and automated REM atonia index were calculated. Group statistical comparisons and regression were performed, and receiver operating characteristic curves determined diagnostic RSWA thresholds that best distinguished synucleinopathy phenotype.ResultsSubmentalis—but not anterior tibialis RSWA—was greater in synucleinopathy than nonsynucleinopathy; several RSWA diagnostic thresholds distinguished synucleinopathy with excellent specificity including submentalis tonic, 5.6% (area under the curve [AUC] 0.791); submentalis any, 15.0% (AUC 0.871); submentalis phasic, 10.8% (AUC 0.863); and anterior tibialis phasic, 31.4% (AUC 0.694). In the subset of patients without dream enactment behaviors, submentalis RSWA was also greater in patients with synucleinopathy than in those without synucleinopathy. RSWA was detected more frequently by quantitative than qualitative methods (p = 0.0001).ConclusionElevated submentalis RSWA distinguishes probable synucleinopathy from probable nonsynucleinopathy in cognitively impaired older adults, even in the absence of clinical dream enactment symptoms.Classification of evidenceThis study provides Class III evidence that quantitative RSWA analysis is useful for distinguishing cognitive impairment phenotypes. Further studies with pathologic confirmation of dementia diagnoses are needed to confirm the diagnostic utility of RSWA in dementia.

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Section: Rswa Analysismentioning

confidence: 95%

“…13 RBD has occurred in only one reported FTD case. 14 RSWA on polysomnography is required for RBD diagnosis. 7,15 No prior studies quantitatively measuring RSWA in a series of patients with DLB or FTD and only 2 studies of RSWA quantification in patients with AD have been published.…”

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confidence: 99%

REM sleep atonia loss distinguishes synucleinopathy in older adults with cognitive impairment

et al. 2020

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“…Diverse etiologies include cases of tauopathy related parkinsonian syndromes (Progressive supranuclear palsy, Guadaloupean parkinsonism) [149][150][151], TDP43opathies (frontotemporal dementia, amyotrophic lateral sclerosis) [7,152], amyloidopathies (Alzheimer's disease) [7,153]. RBD has also been associated with some trinucleatide repeat disorders including spinal cerebellar ataxia type 3 (SCA3) [154][155][156][157] and Huntington's disease [158].…”

Section: Non-synuclein Neurodegenerative Etiologiesmentioning

confidence: 99%

Parasomnias: An Updated Review

2012

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Parasomnias are abnormal behaviors emanating from or associated with sleep. Sleepwalking and related disorders result from an incomplete dissociation of wakefulness from nonrapid eye movement (NREM) sleep. Conditions that provoke repeated cortical arousals, or promote sleep inertia lead to NREM parasomnias by impairing normal arousal mechanisms. Changes in the cyclic alternating pattern, a biomarker of arousal instability in NREM sleep, are noted in sleepwalking disorders. Sleep-related eating disorder (SRED) is characterized by a disruption of the nocturnal fast with episodes of feeding after an arousal from sleep. SRED is often associated with the use of sedative-hypnotic medications; in particular, the widely prescribed benzodiazepine receptor agonists. Recently, compelling evidence suggests that nocturnal eating may in some cases be a nonmotor manifestation of Restless Legs Syndrome (RLS). rapid eye movement (REM) Sleep Behavior Disorder (RBD) is characterized by a loss of REM paralysis leading to potentially injurious dream enactment. The loss of atonia in RBD often predates the development of Parkinson's disease and other disorders of synuclein pathology. Parasomnia behaviors are related to an activation (in NREM parasomnias) or a disinhibition (in RBD) of central pattern generators (CPGs). Initial management should focus on decreasing the potential for sleep-related injury followed by treating comorbid sleep disorders. Clonazepam and melatonin appear to be effective therapies in RBD, whereas paroxetine has been reported effective in some cases of sleep terrors. At this point, pharmacotherapy for other parasomnias is less certain, and further investigations are necessary.Keywords Parasomnia . Sleepwalking . Sleep terrors . REM sleep behavior disorder . Restless legs syndrome Classification of ParasomniasParasomnias are typically classified by the sleep state from which they arise: non-rapid eye movement sleep (NREM) and rapid eye movement sleep (REM) (see Table 1 NREM parasomnias include: confusional arousals, sleepwalking disorder, and sleep terrors. These behaviors arise when the cortex incompletely arouses from deep NREM sleep, often due to comorbid conditions that provoke repeated arousal or promote sleep inertia. Changes in the cyclic alternating pattern, a biomarker of arousal instability in NREM sleep, are noted in sleepwalking and related disorders [3].Sleep-related eating disorder (SRED) is currently classified in the International Classification of Sleep Disorders, 2nd edition (ICSD-2) under "Other Parasomnia" [1]. However the vast majority of SRED cases emanate from NREM [4], and the complex amnestic behaviors with ambulation are striking similar to sleepwalking [5]. Furthermore, both SRED and sleepwalking are frequently triggered by sedating agents in the setting of underlying motor restlessness [6]. Thus, considering these similarities, SRED will be reviewed immediately after NREM parasomnias.REM sleep behavior disorder is the most clinically relevant REM parasomnia. The loss of atoni...

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“…3 A recent case report also described an individual diagnosed with frontotemporal dementia (FTD) three years after he started to complain of sleep disturbance that polysomnography examinations revealed to be RBD. 4 Recently, a non-coding hexanucleotide repeat expansion in the C9orf72 gene has been identified as the most common genetic cause of familial amyotrophic lateral sclerosis (FALS) and FTD. 5,6 A recent study estimated that 37.6% of FALS patients and 25.1% of familial FTD patients carry the C9orf72 expansion, respectively.…”

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confidence: 99%

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

Daoud

Postuma

Bourassa

et al. 2014

Can. J. Neurol. Sci.

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Background: A large hexanucleotide repeat expansion in C9orf72 has been identified as the most common genetic cause in familial amyotrophic lateral sclerosis and frontotemporal dementia. Rapid Eye Movement Sleep Behavior Disorder (RBD) is a sleep disorder that has been strongly linked to synuclein-mediated neurodegeneration. The aim of this study was to evaluate the role of the C9orf72 expansions in the pathogenesis of RBD. Methods: We amplified the C9orf72 repeat expansion in 344 patients with RBD by a repeat-primed polymerase chain reaction assay. Results: We identified two RBD patients carrying the C9orf72 repeat expansion. Most interestingly, these patients have the same C9orf72 associated-risk haplotype identified in 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia families. Conclusions: Our study enlarges the phenotypic spectrum associated with the C9orf72 hexanucleotide repeat expansions and suggests that, although rare, this expansion may play a role in the pathogenesis of RBD.RÉSUMÉ: Expansion des répétitions de C9orf72 dans le trouble des conduites du sommeil paradoxal. Contexte: Une importante expansion de la répétition de l'hexanucléotide C9orf72 a été identifiée comme la cause génétique la plus fréquente de la sclérose latérale amyotrophique familiale et de la démence fronto-temporale. Le trouble des conduites du sommeil paradoxal est un trouble du sommeil qui a été fortement associé à une neurodégénérescence médiée par la synucléine. L'objectif de cette étude était d'évaluer le rôle des expansions de C9orf72 dans la pathogénie des troubles du sommeil paradoxal. Méthodes: Nous avons amplifié l'expansion des répétitions de C9orf72 chez 344 patients atteints de troubles du sommeil paradoxal au moyen d'une réaction en chaîne de la polymérase amorcée par la répétition. Résultats: Nous avons identifié deux patients atteints de troubles du sommeil paradoxal porteurs de l'expansion des répétitions de C9orf72. Il a été extrêmement intéressant de constater que ces patients présentaient le même haplotype de risque associé à C9orf72 dans les familles atteintes de sclérose latérale amyotrophique et de démence fronto-temporale liées à 9p21. Conclusions: Notre étude élargit le spectre des phénotypes associés à l'expansion des répétitions de l'hexanucléotide C9orf72 et suggère que, bien que rare, cette expansion pourrait jouer un rôle dans la pathogénie des troubles du sommeil paradoxal.

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REM sleep behavior disorder in a patient with frontotemporal dementia

Cited by 25 publications

References 6 publications

REM sleep atonia loss distinguishes synucleinopathy in older adults with cognitive impairment

REM sleep atonia loss distinguishes synucleinopathy in older adults with cognitive impairment

Parasomnias: An Updated Review

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

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