Degenerative pontine lesions in patients with familial narcolepsy.

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.

Familial narcolepsy.

BACKGROUND AND PURPOSE: Narcolepsy is a disease 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 (isolated loss of muscle tone associated with rapid eye movement [REM] in normal sleep) and hypnagogic-hypnopompic hallucinations (vivid dreaming occurring at the time of sleep onset and awakening that can be difficult to distinguish from reality). MATERIAL AND METHODS: The authors present eleven patients with suspected narcolepsy, who were members of a five-generation family with many cases of episodic excessive daytime sleepiness. Some of them experienced sleep attacks which were occasionally associated with a sudden loss of muscle tone (cataplexy), as well as with sleep paralysis and hypnagogic hallucinations. All probands had magnetic resonance (MR) of the brain performed, along with routine blood tests, EEG, polysomnography, examination of the level of hypocretin in the cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales. RESULTS: Narcolepsy was diagnosed in nine patients. Improvement in their clinical state was observed during the treatment with modafinil.

[Laryngeal dystonia--personal experience with botulin toxin treatment]. / Dystonia krtaniowa--wlasne doswiadczenia w leczeniu toksyna botuliowa.

Laryngeal dystonia is a focal dystonia occurring more often than it is diagnosed. Adductor type dystonia was described in 5 patients. In 3 cases it manifested itself as blepharospasm, which later developed into Meige's syndrome. The patients were treated with botulinum toxin A injections under EMG control administering 10 i.m. into laryngeal muscles on both sides with good and very good results. There were no serious side effects.