Wenz, Elena; Tafti, Mehdi; Bassetti, Claudio L. A. (2022). LMOD3 gene variant in familial periodic hypersomnolence. Sleep medicine, 91, pp. 105-108. Elsevier 10.1016/j.sleep.2022.02.019
|
Text
1-s2.0-S1389945722000636-main.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (377kB) | Preview |
INTRODUCTION
Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a LMOD3 gene variant was assessed.
CASE DESCRIPTION
The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%.
DISCUSSION
We report the association of periodic hypersomnia with a polymorphism of the LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of LMOD3 variants in KLS.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
Graduate School: |
Graduate School for Health Sciences (GHS) |
UniBE Contributor: |
Wenz, Elena, Bassetti, Claudio L.A. |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1878-5506 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
21 Mar 2022 09:15 |
Last Modified: |
30 Apr 2024 14:05 |
Publisher DOI: |
10.1016/j.sleep.2022.02.019 |
PubMed ID: |
35299092 |
Uncontrolled Keywords: |
Biomarker Central disorders of hypersomnolence Genetic Kleine-Levin syndrome LMOD3 Periodic hypersomnia |
BORIS DOI: |
10.48350/167602 |
URI: |
https://boris.unibe.ch/id/eprint/167602 |
Actions (login required)
 |
Edit item |