Abstract
Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the...Continue Reading
References
Jul 8, 1976·The New England Journal of Medicine·J P BlassN K Menon
Jul 1, 1976·Neurology·S F Reynolds, J Blass
Dec 1, 1978·Neurology·R C GriggsJ McQuillen
Feb 1, 1992·Annals of Neurology·P G BainD A Porter
Mar 1, 1991·Neurology·R W Baloh, A Winder
Oct 1, 1990·Brain : a Journal of Neurology·E R Brunt, T W van Weerden
Sep 1, 1989·Neurology·M D FerrariG W Bruyn
Oct 1, 1989·Developmental Medicine and Child Neurology·N Gordon
Mar 1, 1989·Pediatric Neurology·B T DarrasH E Gilmore
Oct 1, 1987·The Journal of Pediatrics·B H RobinsonW G Sherwood
Jan 1, 1986·Movement Disorders : Official Journal of the Movement Disorder Society·S T Gancher, J G Nutt
May 19, 1987·Brain Research·S P ArnerićD J Reis
Feb 1, 1972·Developmental Medicine and Child Neurology·J H Pincus
Dec 1, 1984·The Journal of Pediatrics·O B Evans
Oct 1, 1994·Nature Genetics·L Ptácek
Mar 1, 1995·Annals of Neurology·R C Griggs, J G Nutt
Mar 1, 1995·Annals of Neurology·K VahediE Tournier-Lasserve
Feb 1, 1995·Human Molecular Genetics·B von BrederlowD E Bulman
Oct 1, 1994·Nature Genetics·D L BrowneM Litt
Jun 1, 1993·Neuropediatrics·C M HarrisI Russell-Eggitt
Sep 1, 1995·Human Molecular Genetics·D L BrowneM Litt
Jan 1, 1996·Annals of Neurology·M A ElliottE F May
Feb 1, 1996·Neurology·R W BalohS F Nelson
Jun 1, 1996·Cephalalgia : an International Journal of Headache·A PeikertR Köhne-Volland
Jan 1, 1996·Genomics·G AuburgerT Voit
Dec 1, 1995·Neuron·J P AdelmanJ Maylie
Nov 1, 1996·Cell·R A OphoffR R Frants
Apr 1, 1996·Archives of Neurology·K F DamjiM A Pericak-Vance
Nov 1, 1996·Annals of Neurology·B S Athwal, G G Lennox
Jan 1, 1997·Annals of Neurology·O Hurko
Jan 1, 1997·Annals of Neurology·R W BalohS F Nelson
May 1, 1997·Brain : a Journal of Neurology·L CalandrielloM Frontali
Feb 14, 2004·Gerontology·Maria J Gámiz, Jose A Lopez-Escamez
Sep 1, 1949·The Journal of Pediatrics·S REFSUMM SKATVEDT
Citations
Dec 10, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·M W HayesJ G Morris
Jun 1, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·M A Beran-KoehnJ E Ahlskog
Sep 2, 2008·Journal of Neurology·Agathe RoubertieElisabeth Tournier-Lasserve
Nov 30, 2000·Current Treatment Options in Neurology·L Averbuch-Heller
Apr 13, 2001·Pediatric Neurology·C H KoK M Ma
Aug 29, 2013·European Journal of Human Genetics : EJHG·Judith ConroySean Ennis
Jun 19, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·Jeong-Min KimJi Soo Kim
Sep 12, 2007·CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne·Raymond C S Seet, Erle C H Lim
Aug 6, 1999·The American Journal of Pathology·A MigheliB Ghetti
Oct 7, 2004·European Journal of Pharmacology·Angelika Richter, Melanie Hamann
Dec 22, 2005·Neuromuscular Disorders : NMD·Domenico TricaricoDiana Conte Camerino
Aug 12, 2014·Experimental Neurology·Samuel J RoseEllen J Hess
Nov 4, 2000·Expert Opinion on Investigational Drugs·K Lawson
Mar 26, 2002·Brain : a Journal of Neurology·Andrea H Németh
Jul 14, 1999·Cephalalgia : an International Journal of Headache·S EversP J Goadsby
Jan 24, 2018·Cephalalgia : an International Journal of Headache·Lieke KrosKamran Khodakhah
Jan 6, 2001·Current Opinion in Ophthalmology·S R Hamilton
Oct 27, 1998·Clinical Genetics·O K Steinlein
Sep 6, 2000·Arquivos de neuro-psiquiatria·A K Grzesiuk
Jul 31, 1999·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M C D'AdamoM Pessia
Oct 28, 2020·Biomedicines·Wojciech Koźmiński, Joanna Pera