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Aniridia with PAX6 mutations and narcolepsy
Uppsala Univ, Sweden.
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Medicine and Health Sciences. Uppsala Univ, Sweden.
Uppsala Univ, Sweden.
Uppsala Univ, Sweden.
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2020 (English)In: Journal of Sleep Research, ISSN 0962-1105, E-ISSN 1365-2869, article id e12982Article in journal (Refereed) Epub ahead of print
Abstract [en]

PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders. Less is known on the coincidence of narcolepsy in this patient group. We aimed to find out whether the circadian rhythm or sleep-wake structure was affected in patients with aniridia. Four members of a family segregating with congenital aniridia in two generations were included in the study. The patients were subjected to genetic testing for a PAX6 mutation, multiple sleep latency test, whole-brain magnetic resonance imaging (MRI), hypocretin-1 in cerebrospinal fluid, and Human Leukocyte Antigen DQ beta1*06:02. All four members were heterozygous for the pathogenic c.959-1Gamp;gt;A mutation in the PAX6 gene. Sleep disturbance was observed in all family members. The index patient was diagnosed with narcolepsy. MRI showed a hypoplastic pineal gland in all members. We describe the first case of a patient with PAX6 haploinsufficiency, aniridia and pineal gland hypoplasia diagnosed with narcolepsy type-1, suggesting a complex sleep disorder pathogenesis.

Place, publisher, year, edition, pages
WILEY , 2020. article id e12982
Keywords [en]
absence of iris; narcolepsy; PAX6 haploinsufficiency; pineal gland atrophy
National Category
Neurology
Identifiers
URN: urn:nbn:se:liu:diva-163415DOI: 10.1111/jsr.12982ISI: 000507560500001PubMedID: 31943460OAI: oai:DiVA.org:liu-163415DiVA, id: diva2:1391361
Note

Funding Agencies|Swedish Research Council SRCSwedish Research Council [2015-4870, 201502424]; Hjarnfonden [FO2019-0210]

Available from: 2020-02-04 Created: 2020-02-04 Last updated: 2020-02-04

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Kristoffersson, AnnaLandtblom, Anne-Marie
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Department of Clinical and Experimental MedicineFaculty of Medicine and Health SciencesDivision of Neuro and Inflammation ScienceDepartment of Neurology in Linköping
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