Narcolepsy pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Muhammad Waleed Haider, M.D.[2]
Overview
The pathophysiology of narcolepsy is only partly understood with the involvement of both genetic and environmental factors. Narcolepsy is considered to arise from multiple hits: the environmental factors, genetic predisposition, and triggering events lead to the selective, immune-mediated destruction, silencing or dysfunction of orexin-producing neurons. One study, published in 2018, described the presence of autoreactive CD4+ and CD8+ T cells in narcolepsy. Three subsequent publications further supported the hypothesis of a pivotal role of specific T cells in the neuronal damage seen in narcolepsy. The exact mechanism leading to the loss of the hypocretin producing neurons in most patients with narcolepsy and cataplexy is unknown. The loss of these neurons is highly selective, sparing the melanin-concentrating hormone (MCH) producing neurons, also in the lateral hypothalamus. This observation supports the prevailing hypothesis of narcolepsy being an autoimmune disorder. The autoimmune hypothesis is further supported by a strong association between narcolepsy, HLA-DQB1*06:02 allele, and polymorphisms in other immune-related genes. In addition, the incidence of narcolepsy follows a specific seasonal pattern, indicating an infectious trigger, although this observation was not found in all studies.[1]
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Physiology
The normal physiology of [name of process] can be understood as follows:
Pathogenesis
- The exact pathogenesis of [disease name] is not completely understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
75% discordance rate for narcolepsy in all described monozygotic twins supports the hypothesis that narcolepsy is a multifactorial disorder.
[Disease name] is transmitted in [mode of genetic transmission] pattern.
OR
Genes involved in the pathogenesis of [disease name] include:
- [Gene1]
- [Gene2]
- [Gene3]
OR
The development of [disease name] is the result of multiple genetic mutations such as:
- [Mutation 1]
- [Mutation 2]
- [Mutation 3]
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Han F, Lin L, Warby SC, Faraco J, Li J, Dong SX; et al. (2011). "Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China". Ann Neurol. 70 (3): 410–7. doi:10.1002/ana.22587. PMID 21866560.