LMOD3 gene variant in familial periodic hypersomnolence.

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

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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

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