Migraine and episodic ataxia type 2: a clinical, genetic, neurotologic, and magnetic resonance spectroscopy study

9 REVIEW OF THE LITERATURE 10 1. CLINICAL CHARACTERISTICS OF MIGRAINE AND EPISODIC ATAXIA TYPE 2 10 1.1. Migraine with and without aura 10 1.2. Familial hemiplegic migraine (FHM) 11 1.3. Episodic ataxia type 2 (EA2) 11 2. GENETICS AND PATHOPHYSIOLOGY OF MIGRAINE AND EA2 13 2.1. Genetics of migraine 13 2.2. Genetics of FHM 14 2.3. Genetic background of EA2 15 2.4. Migraine mechanisms 15 2.5. Functional studies and insights into the pathophysiology of FHM and EA2 ... 18 2.6. Acetazolamide – a possible preventive medicine in EA2 and migraine 21 3. THE PERIPHERAL AND CENTRAL VESTIBULAR SYSTEM 21 3.1. The peripheral system 22 3.2. The central system 22 3.3. Nystagmus 23 3.4. Laboratory examinations of the vestibular system 25 3.5. Neurotologic fi ndings in migraine 27 3.6. Varying oculomotor dysfunction in FHM 28 3.7. Defi nite and subclinical neurotologic fi ndings in EA2 28 4. PROTON (1H) MAGNETIC RESONANCE SPECTROSCOPY (MRS) IN MIGRAINE AND EA2 ..... 29 4.1. Severe migraine syndromes show decreased brain metabolites 30 4.2. High cerebellar lactate peaks in EA2 patients 30 AIMS 31 PATIENTS AND METHODS 32 5. PATIENTS AND CONTROLS 32 5.1. Migraine with and without aura 32 5.2. Familial hemiplegic migraine type 2 33 5.3. Episodic ataxia type 2 33 6. GENETIC METHODS 34 7. NEUROTOLOGIC M ETHODS 35 7.1. Video-oculography 35 7.2. Electronystagmography and caloric testing 35