open access

Vol 44, No 1 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2009-08-31
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Degenerative pontine lesions in patients with familial narcolepsy

Adam Stępień, Jacek Staszewski, Teofan Maria Domżał, Kazimierz Tomczykiewicz, Ewa Skrobowska, Marta Durka-Kęsy
DOI: 10.1016/S0028-3843(14)60403-5
·
Neurol Neurochir Pol 2010;44(1):21-27.

open access

Vol 44, No 1 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2009-08-31

Abstract

Background and purpose

Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1–5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy.

Material and methods

The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales.

Results

In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed.

Conclusions

The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.

Abstract

Background and purpose

Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1–5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy.

Material and methods

The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales.

Results

In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed.

Conclusions

The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.

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Keywords

familial narcolepsy, magnetic resonance imaging, pontine substantia nigra

About this article
Title

Degenerative pontine lesions in patients with familial narcolepsy

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 44, No 1 (2010)

Pages

21-27

DOI

10.1016/S0028-3843(14)60403-5

Bibliographic record

Neurol Neurochir Pol 2010;44(1):21-27.

Keywords

familial narcolepsy
magnetic resonance imaging
pontine substantia nigra

Authors

Adam Stępień
Jacek Staszewski
Teofan Maria Domżał
Kazimierz Tomczykiewicz
Ewa Skrobowska
Marta Durka-Kęsy

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