Narcolepsy in African Americans

Kawai, Makoto; O’Hara, Ruth; Einen, Mali; Lin, Ling; Mignot, Emmanuel

doi:10.5665/sleep.5140

Cited by 36 publications

(37 citation statements)

References 51 publications

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“…Although the sensitivity and specificity of this revised ICSD-3 PSG-MSLT criteria have not been formally analyzed, they are likely to remain similar to those of the ICSD-2 MSLT alone. In a recent analysis of several thousand patients with type 1 narcolepsy, only three of over 1000 subjects had a SOREMP at night and only one SOREMP during the MSLT [18]. As specificity for a SOREMP alone is extremely high (99%), the overall specificity of the revised criteria is also unlikely to change significantly.…”

Section: Introductionmentioning

confidence: 94%

Sleep-stage transitions during polysomnographic recordings as diagnostic features of type 1 narcolepsy

et al. 2015

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Section: Introductionmentioning

confidence: 94%

Sleep-stage transitions during polysomnographic recordings as diagnostic features of type 1 narcolepsy

et al. 2015

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“…Although narcolepsy is predominantly associated with loss of hypocretin, the role of genetics is less well understood and, therefore, is complementary to the diagnosis but not confirmatory. Evidence suggests a strong association between narcolepsy and human leukocyte antigen (HLA) especially HLA-DQB1*0602 [ 5 ]. The positivity of DQB1*0602, a subtype of DR2, in African American patients has been linked with the earlier onset of narcolepsy [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Off-label Sodium Oxybate in Childhood Narcolepsy: A Comprehensive Report

Miskoff¹,

Chaudhri²

2018

Cureus

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Narcolepsy is a sleep disorder that can manifest in childhood or adolescence by causing excessive sleepiness, hallucinations, sleep attacks, or cataplexy. There is often a significant delay in diagnosis with the mean time being 15 years from the onset of symptoms, which may lead to further exacerbations and a high comorbidity burden. Although narcolepsy is predominantly associated with loss of hypocretin (orexin), the role of genetics is poorly understood and, therefore, is complementary to the diagnosis but not confirmatory. We present the case of a child who was misdiagnosed as suffering from schizophrenia only to later uncover narcolepsy with cataplexy. Even though she did not meet strict criteria for narcolepsy type 1, her history and objective data were consistent enough to make an official diagnosis. In addition, her clinical response to treatment was very positive, further supporting narcolepsy as the most likely underlying condition. This presentation highlights the importance of continued education and research to reduce the risk of delay in diagnosis or misdiagnosis.

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“…However, around the time of symptom onset, there exist significant racial differences in manifestations of the cardinal features of narcolepsy, including those of cataplexy, sleepiness, and hypnogogic hallucinations. 103 In addition to having an earlier and more pronounced subjective sleepiness, African Americans with low CSF hypocretin-1 are 4.5 times more likely to present without cataplexy compared with Caucasians (28.3% vs. 8.1%, respectively). 103 And even though narcolepsy is classically defined as a disorder of excessive sleep (i.e., hypersomnia), the total daily sleep duration over the course of 24 hours remains within the normal range.…”

Section: Clinical Presentationmentioning

confidence: 98%

“…103 In addition to having an earlier and more pronounced subjective sleepiness, African Americans with low CSF hypocretin-1 are 4.5 times more likely to present without cataplexy compared with Caucasians (28.3% vs. 8.1%, respectively). 103 And even though narcolepsy is classically defined as a disorder of excessive sleep (i.e., hypersomnia), the total daily sleep duration over the course of 24 hours remains within the normal range. 104 Such symptomatic variability and lack of clinical familiarity with the disorder commonly results in delayed diagnosis.…”

Section: Clinical Presentationmentioning

confidence: 98%

Diagnosis and Management of Narcolepsy

Schneider

Mignot

2017

Semin Neurol

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Type 1 narcolepsy is caused by deficient hypocretin signaling in the central nervous system (CNS), and is distinct from other primary CNS hypersomnias, which seem to lay along a spectrum from type 2 narcolepsy to idiopathic hypersomnia. There appears to be a strong autoimmune diathesis to the development of type 1 narcolepsy, as evidenced by the near universal presence of HLA-DQB1*06:02 in patients. Growing knowledge of the immunogenetic basis of the disease is supported by genetic studies and seasonal variation of type 1 narcolepsy incidence following winter upper respiratory infections (e.g., strep throat and influenza). Despite improved diagnostic accuracy of adding cerebrospinal fluid hypocretin measurement to the traditional workup, recognition of the disorder remains limited by its moderate prevalence and atypical manifestations in different ethnic groups. Treatments are currently symptom-based, and have been extended to other hypersomnias with mixed results.

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Narcolepsy in African Americans

Cited by 36 publications

References 51 publications

Sleep-stage transitions during polysomnographic recordings as diagnostic features of type 1 narcolepsy

Sleep-stage transitions during polysomnographic recordings as diagnostic features of type 1 narcolepsy

Off-label Sodium Oxybate in Childhood Narcolepsy: A Comprehensive Report

Diagnosis and Management of Narcolepsy

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