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Familial Kleine-Levin Syndrome: A Specific Entity?
Quang Tuan Remy Nguyen1, Elisabeth Groos1, Laurène Leclair-Visonneau2
1National Reference Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Sleep Disorders Unit and Hospital-University Institute of Neuroscience, Pitié-Salpêtrière Hospital (APHP), Pierre and Marie Curie University, Paris, France.
Sleep
|June 3, 2016
Summary
Familial Kleine-Levin syndrome (KLS) cases are clinically similar to sporadic KLS but present less severely. Episodes occur less frequently in familial KLS, with distinct triggers and symptoms observed in affected families.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Kleine-Levin syndrome (KLS) is a rare neurological disorder characterized by recurrent episodes of hypersomnia, cognitive deficits, and behavioral changes.
- While often sporadic, familial cases of KLS have been reported, suggesting a potential genetic component.
Purpose of the Study:
- To investigate and contrast the clinical and biological characteristics of familial versus sporadic Kleine-Levin syndrome.
- To identify potential differences in disease presentation, triggers, and genetic factors between familial and sporadic KLS.
Main Methods:
- A study involving 260 patients with KLS from the US and France, utilizing clinical interviews and human leukocyte antigen (HLA) genotyping.
- Familial cases were defined by the presence of two or more affected first- or second-degree relatives.
Main Results:
- Out of 260 KLS patients, 21 were identified in 10 multiplex families (8% familial cases).
- Familial KLS showed less frequent episodes, a higher trigger rate by menses in females, and distinct symptom profiles including less disinhibited speech and altered eating patterns.
- No significant differences were found in autoimmune, neurological, psychiatric disorders, age, sex, ethnicity, HLA typing, karyotyping, or disease course between familial and sporadic KLS.
Conclusions:
- Familial KLS is primarily observed within the same generation.
- Clinically, familial KLS is comparable to sporadic KLS but appears to be slightly less severe.
- The study highlights subtle but significant differences in episode frequency and symptom presentation between familial and sporadic KLS.
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