Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

Møller, Rikke S.; Zhao, Lu; Shoaff, Jessica R.; Dunø, Morten; Andersen, Birgit; Nguyễn, Việt Hùng; Fang, Terry; Kupelian, Varant; Thorén, Robyn

doi:10.1016/j.ymgmr.2022.100924

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…A recent report indicates that the annual average incidence rate of AGS in Denmark is 0.0539/100000 persons in the population under 18 years of age and birth incidence was less than 0.7600/100000 live births during 2010-2020. 2 Since AGS is an uncommon syndrome, its pathogenesis, diagnosis and treatment are not well understood. AGS is often misdiagnosed as the sequelae of congenital infection where viral, as opposed to self, nucleic acids trigger similar overproduction of type I IFNs.…”

Section: Introductionmentioning

confidence: 99%

“…AGS is also a rare hereditary encephalopathy. A recent report indicates that the annual average incidence rate of AGS in Denmark is 0.0539/100000 persons in the population under 18 years of age and birth incidence was less than 0.7600/100000 live births during 2010–2020 2 . Since AGS is an uncommon syndrome, its pathogenesis, diagnosis and treatment are not well understood.…”

Section: Introductionmentioning

confidence: 99%

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Aicardi–Goutières syndrome: A monogenic type I interferonopathy

Liu

Shi

2023

Scand J Immunol

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Aicardi–Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon‐α (IFN‐α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7‐1) that result in accumulation of self‐nucleic acids in the cytoplasm or aberrant sensing of self‐nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aicardi–Goutières syndrome: A monogenic type I interferonopathy

Liu

Shi

2023

Scand J Immunol

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Time and headache: Insights into timing processes in primary headache disorders for diagnosis, underlying pathophysiology and treatment implications

Gonzalez-Martinez,

Ray,

Haghdoost

et al. 2024

Cephalalgia

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Background Time in headache disorders is crucial for diagnosis and gives insight into headache pathophysiology. Objective To summarize published studies which describe timing processes in both attack presentation (onset, duration) and disease characterization (age of onset, evolution over time) in primary headache disorders and link to pathophysiology. Methods A comprehensive search was conducted through Ovid MEDLINE(R) and PubMed, focusing on English-language articles from 1946 to 2023 to write the review. The International Classification of Headache Disorders, 3rd edition provided the framework for the review of primary headache disorders (migraine, tension-type headache and cluster headache). Results Attack presentation: Migraine attacks exhibit significant circadian and infradian rhythms, influenced by hormonal levels, light sensitivity, and hypothalamic activation. Tension-type headache lacks clear chronobiological patterns, with limited understanding of its underlying mechanisms. Cluster headache displays a distinct circannual pattern, with attacks often occurring at night and relevant involvement of the hypothalamus. Disease characterization: Age of onset exhibits the earliest peak in migraine; frequency and typical features of primary headache disorders decrease over time. Conclusion This comprehensive analysis of time patterns in primary headache disorders underscores their role in phenotyping, understanding and treating primary headache disorders, offering promising avenues for advancing and tailoring headache management.

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Neurological Impact of Type I Interferon Dysregulation

Mylonas

2024

Rare Neurodegenerative Disorders - New Insights [Working Title]

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Type I interferons are a class of potent and tightly regulated cytokines important for antiviral and anti-tumoural innate and adaptive immunity. Dysregulated production can have serious neurologic consequences as exemplified in a family of rare diseases called type I interferonopathies. Interferonopathies represent a group of genetically determined conditions characterised by upregulated type I interferon production causing a spectrum of neuroinflammatory and systemic manifestations. This chapter delves into the historical discovery of type I interferons, their role in innate immunity, and the subsequent identification of interferonopathies placing emphasis on the mechanisms of neurologic dysfunction that often dominate the clinical picture. The insights gained from studying these rare diseases offer valuable lessons for neurodegenerative and neuropsychiatric conditions which demonstrate considerable overlap with interferonopathies, underscoring the broader significance of type I interferons in more common neurologic diseases. Relevant therapeutic strategies targeting this pathway are discussed, emphasising the need for brain-penetrant approaches.

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Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

Cited by 3 publications

References 23 publications

Aicardi–Goutières syndrome: A monogenic type I interferonopathy

Aicardi–Goutières syndrome: A monogenic type I interferonopathy

Time and headache: Insights into timing processes in primary headache disorders for diagnosis, underlying pathophysiology and treatment implications

Neurological Impact of Type I Interferon Dysregulation

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