The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1 (orexin A)

Bassetti, Claudio L.; Gugger, Matthias; Bischof, Matthias; Mathis, Johannes; Sturzenegger, Christian; Werth, Esther; Radanov, Bogdan P.; Ripley, Beth; Nishino, Seiji; Mignot, Emmanuel

doi:10.1016/s1389-9457(02)00191-0

Cited by 112 publications

(45 citation statements)

References 23 publications

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“…However, REM episodes as seen in classical forms could be absent in secondary narcolepsy 11 . Secondary narcolepsy is rare but is known to occur in cerebral sarcoidosis, pituitary lesions, craniopharyngiomas, strokes, multiple sclerosis, HIV encephalopathy, arteriovenous malformations and tumours involving the posterior hypothalamus 11,12 . An exception is the anti-Ma2 associated encephalitis where narcolepsy is frequent 13 .…”

Section: Discussionmentioning

confidence: 97%

Hypersomnia in Whipple disease: case report

Maia

Marta

Lopes

et al. 2006

Arq. Neuro-Psiquiatr.

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-Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40% of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime somnolence. The patient was HLA-DQB1*0602 positive (genetic marker for narcolepsy). WD diagnosis was suspected on clinical and MRI basis and confirmed by histological and immunohistochemical study of duodenal biopsy. Forty months later all clinical features improved, narcoleptic-like episodes disappeared and cerebral MRI and CSF normalised. Longitudinal neurophysiological studies revealed persistent sleep pattern abnormalities with sleep fragmentation, paucity of slow wave and of REM sleep. The disruption of the hypocretin circuitry in the hypothalamic -diencephalic region triggered by the infection was the probable cause of the hypersomnia and narcopleptic symptoms. WD should be added to the list of causes of secondary hypersomnia.KEY WORDS: Whipple disease, hypersomnia, multiple sleep latency test, HLA (DQB1*0602). Hipersónia na doença de Whipple: relato de casoRESUMO -A doença de Whipple (DW) é infecção sistémica rara causada pelo Tropheryma whippelii. Cerca de 40% dos doentes apresentam envolvimento neurológico, seja como manifestação inicial da doença, seja durante o seu curso. Apresentamos o caso de um homem de 45 anos com doença de DW com episó-dios iniciais, persistentes e irresistíveis de sonolência durante a actividade diurna. O doente era positivo para o HLA-DQB1*0602 (marcador genético de narcolepsia). A suspeita do diagnóstico de DW foi levantada com base na clínica e RM e confirmada por estudo imunocitoquímico do material de biópsia jejunal. Quarenta meses mais tarde, todas as manifestações clínicas melhoraram, os episódios narcolépticos desapareceram, e a RM e o LCR normalizaram. Os estudos neurofisiológicos seriados do sono revelaram alterações persistentes caracterizadas por fragmentação do sono, escassez de ondas lentas e sono REM. A perturbação do circuito da hipocretina na região hipotálamo-diencefálica, causada pela infecção, foi a causa provável da hipersónia num doente geneticamente susceptível. A DW deve ser incluída nas causas de hipersónia secundária. PALAVRAS-CHAVE: doença de Whipple, hipersónia, teste de latências múltiplas, HLA (DQB1*0602).When George H Whipple first described in 1907 the autopsy findings of a case of "intestinal lipodystrophy" no neurological manifestations were reported and pathology of central nervous system (CNS) was not described. Whipple disease (WD) was born. It is now believed that the CNS is the major extra-intestinal site of involvement 1,2 . Data in the literature report a variable frequency of neurological symptomatology of 5-40% with only 5% with exclusive CNS involvement 1-4 . WD is caused by Tropheryma whippelii (TW) and it is generally accepted that both the presence of the bacillus and the host response are responsible for the ...

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Section: Discussionmentioning

confidence: 97%

Hypersomnia in Whipple disease: case report

Maia

Marta

Lopes

et al. 2006

Arq. Neuro-Psiquiatr.

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“…The remaining CNS hypersomnias begin at a similar age, are much less likely to be associated with hypocretin defi ciency, 1-4 and lack a pathognomonic sign or symptom. 5,6 They have many features in common, including hallucinations and sleep paralysis, 1,4 unrefreshing naps, 7,8 sleep drunkenness, 1,7,8 and prolonged nocturnal sleep. [8][9][10] Therefore, differentiation between narcolepsy without cataplexy and idiopathic hypersomnia relies solely on the MSLT 4 and the propensity for REM sleep to intrude into more than one daytime nap.…”

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confidence: 99%

“…Narcolepsy with cataplexy is a chronic disease characterized by short latencies to both sleep and REM sleep on daytime nap opportunities during the multiple sleep latency test (MSLT) and is caused by immunogenetically mediated loss of hypocretin. 1 Cataplexy is a clinical feature highly specifi c to hypocretin-defi cient narcolepsy, although is not always evident near the onset of sleepiness. The remaining CNS hypersomnias begin at a similar age, are much less likely to be associated with hypocretin defi ciency, [1][2][3][4] and lack a pathognomonic sign or symptom.…”

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confidence: 99%

“…1 Cataplexy is a clinical feature highly specifi c to hypocretin-defi cient narcolepsy, although is not always evident near the onset of sleepiness. The remaining CNS hypersomnias begin at a similar age, are much less likely to be associated with hypocretin defi ciency, [1][2][3][4] and lack a pathognomonic sign or symptom. 5,6 They have many features in common, including hallucinations and sleep paralysis, 1,4 unrefreshing naps, 7,8 sleep drunkenness, 1,7,8 and prolonged nocturnal sleep.…”

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Test-Retest Reliability of the Multiple Sleep Latency Test in Narcolepsy without Cataplexy and Idiopathic Hypersomnia

Trotti

Staab²,

Rye³

2013

Journal of Clinical Sleep Medicine

179

107

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conducted within three weeks of each other.11 Inter-test intervals are generally much longer in clinical practice, and in that case the stability of MSLT features has not been established. We therefore evaluated the test-retest reliability of the MSLT in a clinic population of patients with narcolepsy without cataplexy and idiopathic hypersomnia. METHODS Patient SelectionPatients with a clinical syndrome consistent with a CNS hypersomnia (i.e., reports of problematic, excessive daytime sleepiness persisting ≥ 3 months despite adequate or supra-normal habitual sleep durations, not explained by other causes of daytime sleepiness) who had undergone 2 MSLTs were identiStudy Objectives: Differentiation of narcolepsy without cataplexy from idiopathic hypersomnia relies entirely upon the multiple sleep latency test (MSLT). However, the test-retest reliability for these central nervous system hypersomnias has never been determined. Methods: Patients with narcolepsy without cataplexy, idiopathic hypersomnia, and physiologic hypersomnia who underwent two diagnostic multiple sleep latency tests were identifi ed retrospectively. Correlations between the mean sleep latencies on the two studies were evaluated, and we probed for demographic and clinical features associated with reproducibility versus change in diagnosis. Results: Thirty-six patients (58% women, mean age 34 years) were included. Inter-test interval was 4.2 ± 3.8 years (range 2.5 months to 16.9 years). Mean sleep latencies on the fi rst and second tests were 5.5 (± 3.7 SD) and 7.3 (± 3.9) minutes, respectively, with no signifi cant correlation (r = 0.17, p = 0.31). A change in diagnosis occurred in 53% of patients, and was accounted for by a difference in the mean sleep latency (N = 15, 42%) or the number of sleep onset REM periods (N = 11, 31%). The only feature predictive of a diagnosis change was a history of hypnagogic or hypnopompic hallucinations. Conclusions S C I E N T I F I C I N V E S T I G A T I O N ST he central nervous system (CNS) hypersomnias manifest as excessive daytime sleepiness with or without prolonged nocturnal sleep in the absence of demonstrable nocturnal sleep pathology or insuffi cient sleep. They include the entities of narcolepsy with and without cataplexy and idiopathic hypersomnia. Narcolepsy with cataplexy is a chronic disease characterized by short latencies to both sleep and REM sleep on daytime nap opportunities during the multiple sleep latency test (MSLT) and is caused by immunogenetically mediated loss of hypocretin.1 Cataplexy is a clinical feature highly specifi c to hypocretin-defi cient narcolepsy, although is not always evident near the onset of sleepiness. The remaining CNS hypersomnias begin at a similar age, are much less likely to be associated with hypocretin defi ciency, 1-4 and lack a pathognomonic sign or symptom. 5,6 They have many features in common, including hallucinations and sleep paralysis, 1,4 unrefreshing naps, 7,8 sleep drunkenness, 1,7,8 and prolonged nocturnal sleep. [8][9][10] Therefore, differenti...

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“…Paramedian talamik inme sonrası gelişen talamik hipersomninin patogenezinde ise, beyin sapı retiküler formasyondan talamusa uzanan noradrenerjik ve dopaminerjik aktive edici uyarıların oluşmaması vardır (4,5,7,8,9). Bassetti ve ark.…”

Section: Olguunclassified

Development of hypersomnia after bilateral paramedian thalamic stroke: case report

Utku¹,

Tunçel²

2010

Türk Beyin Damar Hast Derg

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The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1 (orexin A)

Cited by 112 publications

References 23 publications

Hypersomnia in Whipple disease: case report

Hypersomnia in Whipple disease: case report

Test-Retest Reliability of the Multiple Sleep Latency Test in Narcolepsy without Cataplexy and Idiopathic Hypersomnia

Development of hypersomnia after bilateral paramedian thalamic stroke: case report

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