Migraine and Episodic Ataxia Type 2: a Clinical, Genetic, Neurotologic, and Magnetic Resonance Spectroscopy Study
نویسندگان
چکیده
..................................................................................................................... 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
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