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acetazolamide and Cerebellar Ataxia

acetazolamide has been researched along with Cerebellar Ataxia in 28 studies

Acetazolamide: One of the CARBONIC ANHYDRASE INHIBITORS that is sometimes effective against absence seizures. It is sometimes useful also as an adjunct in the treatment of tonic-clonic, myoclonic, and atonic seizures, particularly in women whose seizures occur or are exacerbated at specific times in the menstrual cycle. However, its usefulness is transient often because of rapid development of tolerance. Its antiepileptic effect may be due to its inhibitory effect on brain carbonic anhydrase, which leads to an increased transneuronal chloride gradient, increased chloride current, and increased inhibition. (From Smith and Reynard, Textbook of Pharmacology, 1991, p337)

Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)

Research Excerpts

ExcerptRelevanceReference
"Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks."7.69Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. ( Bulman, DE; Ebers, GC; Hahn, AF; Koopman, WJ; von Brederlow, B, 1995)
"Episodic ataxia type 2 is an autosomal dominant channelopathy, caused by genetic variants in the voltage-dependent calcium channel a-1 subunit (CACNA1A), which is characterized by intermittent episodes of vertigo and ataxia."5.72The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2. ( Brieva-Ruiz, L; González-Mingot, C; López-Ortega, R, 2022)
"Paroxysmal cerebellar ataxia (PCA) is a specific disease which exhibits spasmodic cerebellar ataxia but rarely shows abnormal neurological findings in the intermission."5.28[Paroxysmal cerebellar ataxia--an evaluation using the findings from magnetic resonance imaging, positron emission tomography, and acetazolamide treatment]. ( Araki, S; Hirayama, K; Isono, O; Kawamura, M; Shiota, J, 1990)
"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."4.80Episodic ataxia and channelopathies. ( Gordon, N, 1998)
"Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks."3.69Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. ( Bulman, DE; Ebers, GC; Hahn, AF; Koopman, WJ; von Brederlow, B, 1995)
"Acetazolamide-responsive periodic ataxia (ARPA) is a rare movement disorder, characterized by recurrent episodes of vertigo, cerebellar ataxia, and nystagmus, which has recently been characterized genetically."3.69The electroencephalogram in acetazolamide-responsive periodic ataxia. ( Chistik, V; Korczyn, AD; Neufeld, MY; Nisipeanu, P, 1996)
"Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown."3.69[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case]. ( Clemente, F; Escrivá, P; Gómez-Gosálvez, F; Mallada, J; Millet, E; Mulas, F; Palao, F; Smeyers, P, 1997)
"Six affected members of two families with familial periodic cerebellar ataxia were relieved of their symptoms with oral acetazolamide."3.68Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. ( Bain, PG; Keevil, SF; O'Brien, MD; Porter, DA, 1992)
"Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders."3.01Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches. ( Hassan, A, 2023)
"Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms."1.91[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients]. ( Alcalá-Torres, J; Arteche-López, A; Cárdenas-Del Carre, A; Pérez-de la Fuente, R; Posada-Rodríguez, IJ, 2023)
"Episodic ataxia type 2 is an autosomal dominant channelopathy, caused by genetic variants in the voltage-dependent calcium channel a-1 subunit (CACNA1A), which is characterized by intermittent episodes of vertigo and ataxia."1.72The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2. ( Brieva-Ruiz, L; González-Mingot, C; López-Ortega, R, 2022)
"Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias."1.72Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia. ( Ásbjörnsdóttir, B; Lindquist, SG; Møller, LB; Nielsen, EN; Nielsen, JE, 2022)
"Dystonia is potentially included as a further part of the phenotype spectrum of CACNA1A gene mutations."1.42Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. ( Beyer, A; Kinder, S; Ossig, C; Smitka, M; Storch, A; von der Hagen, M; Wienecke, M, 2015)
"We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe attacks of hemiplegic migraine triggered by minor head traumas and associated with hemispheric swelling and seizures."1.40Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. ( Al-Qusairi, L; Bonafé, L; García Segarra, N; Gautschi, I; Kallay Zetchi, C; Maeder, P; Mittaz-Crettol, L; Roulet-Perez, E; Schild, L; Van Bemmelen, MX, 2014)
"She was treated with acetazolamide for simple glaucoma and since 14 days with ASA for acute pericarditis."1.30[Salicylism and glaucoma: reciprocal augmentation of the toxicity of acetazolamide and acetylsalicylic acid]. ( De Toffol, MC; Grimbert, M; Hazouard, E; Jonville-Berra, AP; Legras, A, 1999)
"The association of FHM and cerebellar ataxia has been reported in a small number of FHM families, all linked to chromosome 19."1.30A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. ( Battistini, N; Battistini, S; Carrera, P; Ferrari, M; Gelfi, C; Giannini, F; Guazzi, GC; Piatti, M; Righetti, PG; Rocchi, R; Stenirri, S, 1999)
"Paroxysmal cerebellar ataxia (PCA) is a specific disease which exhibits spasmodic cerebellar ataxia but rarely shows abnormal neurological findings in the intermission."1.28[Paroxysmal cerebellar ataxia--an evaluation using the findings from magnetic resonance imaging, positron emission tomography, and acetazolamide treatment]. ( Araki, S; Hirayama, K; Isono, O; Kawamura, M; Shiota, J, 1990)
"Treatment with acetazolamide resulted in abolition of paroxysms in nine of the 10 treated cases."1.28Paroxysmal cerebellar ataxia. ( Boyle, RS; Feeney, GF, 1989)

Research

Studies (28)

TimeframeStudies, this research(%)All Research%
pre-19902 (7.14)18.7374
1990's14 (50.00)18.2507
2000's2 (7.14)29.6817
2010's6 (21.43)24.3611
2020's4 (14.29)2.80

Authors

AuthorsStudies
González-Mingot, C1
López-Ortega, R1
Brieva-Ruiz, L1
Nielsen, EN1
Ásbjörnsdóttir, B1
Møller, LB1
Nielsen, JE1
Lindquist, SG1
Hassan, A1
Alcalá-Torres, J1
Pérez-de la Fuente, R1
Cárdenas-Del Carre, A1
Arteche-López, A1
Posada-Rodríguez, IJ1
Abbasi, S2
Abbasi, A2
Sarbaz, Y2
García Segarra, N1
Gautschi, I1
Mittaz-Crettol, L1
Kallay Zetchi, C1
Al-Qusairi, L1
Van Bemmelen, MX1
Maeder, P1
Bonafé, L1
Schild, L1
Roulet-Perez, E1
Kinder, S1
Ossig, C1
Wienecke, M1
Beyer, A1
von der Hagen, M1
Storch, A1
Smitka, M1
Suzuki, M1
Fujiwara, K1
Tsubuku, T1
Yabe, I1
Sasaki, H1
Fukuda, S1
Choi, KD1
Jen, JC1
Choi, SY1
Shin, JH1
Kim, HS1
Kim, HJ1
Kim, JS1
Choi, JH1
Matsuyama, Z1
Murase, M1
Shimizu, H1
Aoki, Y1
Hayashi, M1
Hozumi, I1
Inuzuka, T1
Strupp, M1
Zwergal, A1
Brandt, T1
Lubbers, WJ1
Brunt, ER1
Scheffer, H1
Litt, M1
Stulp, R1
Browne, DL1
van Weerden, TW1
Poza, JJ1
Martí Massó, JF1
Amato, E1
von Brederlow, B1
Hahn, AF1
Koopman, WJ1
Ebers, GC1
Bulman, DE1
Neufeld, MY1
Nisipeanu, P1
Chistik, V1
Korczyn, AD1
Athwal, BS1
Lennox, GG1
Van Bogaert, P1
Szliwowski, HB1
Gómez-Gosálvez, F1
Smeyers, P1
Escrivá, P1
Clemente, F1
Mallada, J1
Mulas, F1
Palao, F1
Millet, E1
Gordon, N1
Namekawa, M1
Takiyama, Y1
Ueno, N1
Nishizawa, M1
Hazouard, E1
Grimbert, M1
Jonville-Berra, AP1
De Toffol, MC1
Legras, A1
Battistini, S1
Stenirri, S1
Piatti, M1
Gelfi, C1
Righetti, PG1
Rocchi, R1
Giannini, F1
Battistini, N1
Guazzi, GC1
Ferrari, M1
Carrera, P1
Bain, PG2
O'Brien, MD2
Keevil, SF1
Porter, DA1
Larkin, GB1
Calver, DM1
Araki, S1
Kawamura, M1
Shiota, J1
Isono, O1
Hirayama, K1
Feeney, GF1
Boyle, RS1
Trillet, M1
Gouttard, M1
Schott, B1

Reviews

3 reviews available for acetazolamide and Cerebellar Ataxia

ArticleYear
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
    Tremor and other hyperkinetic movements (New York, N.Y.), 2023, Volume: 13

    Topics: Acetazolamide; Ataxia; Cerebellar Ataxia; Humans; Mutation

2023
Episodic ataxia type 2.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2007, Volume: 4, Issue:2

    Topics: 4-Aminopyridine; Acetazolamide; Animals; Calcium Channels; Carbonic Anhydrase Inhibitors; Cerebellar

2007
Episodic ataxia and channelopathies.
    Brain & development, 1998, Volume: 20, Issue:1

    Topics: Acetazolamide; Ataxia; Athetosis; Cerebellar Ataxia; Chorea; Hemiplegia; Humans; Ion Channels; Migra

1998

Trials

1 trial available for acetazolamide and Cerebellar Ataxia

ArticleYear
EEG findings in acetazolamide-responsive hereditary paroxysmal ataxia.
    Neurophysiologie clinique = Clinical neurophysiology, 1996, Volume: 26, Issue:5

    Topics: Acetazolamide; Adolescent; Adult; Aged; Anticonvulsants; Cerebellar Ataxia; Child; Electroencephalog

1996

Other Studies

24 other studies available for acetazolamide and Cerebellar Ataxia

ArticleYear
The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022, Volume: 43, Issue:8

    Topics: 4-Aminopyridine; Acetazolamide; Adult; Ataxia; Cerebellar Ataxia; Female; Humans; Male; Middle Aged;

2022
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.
    Cold Spring Harbor molecular case studies, 2022, Volume: 8, Issue:6

    Topics: Acetazolamide; Adolescent; Ataxia; Calcium Channels; Cerebellar Ataxia; Dystonic Disorders; Female;

2022
[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients].
    Revista de neurologia, 2023, 05-16, Volume: 76, Issue:10

    Topics: Acetazolamide; Ataxia; Cerebellar Ataxia; Delayed Diagnosis; Female; Humans; Mutation; Retrospective

2023
Combination of BK channel opener and Kv4 channel inhibitor for treatment of cerebellar ataxia in mutant med mice.
    The Journal of neuropsychiatry and clinical neurosciences, 2013,Fall, Volume: 25, Issue:4

    Topics: 4-Aminopyridine; Acetazolamide; Animals; Cerebellar Ataxia; Large-Conductance Calcium-Activated Pota

2013
Introducing treatment strategy for cerebellar ataxia in mutant med mice: combination of acetazolamide and 4-aminopyridine.
    Computer methods and programs in biomedicine, 2014, Volume: 113, Issue:2

    Topics: 4-Aminopyridine; Acetazolamide; Action Potentials; Animals; Cerebellar Ataxia; Disease Models, Anima

2014
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    Journal of the neurological sciences, 2014, Jul-15, Volume: 342, Issue:1-2

    Topics: Acetazolamide; Adolescent; Animals; Ataxia; Brain Edema; Calcium Channels; Cerebellar Ataxia; Child;

2014
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015, Volume: 19, Issue:1

    Topics: Acetazolamide; Age of Onset; Calcium Channels; Carbonic Anhydrase Inhibitors; Cerebellar Ataxia; Chi

2015
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide.
    Journal of the neurological sciences, 2016, Sep-15, Volume: 368

    Topics: Acetazolamide; Anticonvulsants; Cerebellar Ataxia; Family Health; Humans; Magnetic Resonance Imaging

2016
Late-onset episodic ataxia associated with SLC1A3 mutation.
    Journal of human genetics, 2017, Volume: 62, Issue:3

    Topics: Acetazolamide; Adult; Age of Onset; Amino Acid Sequence; Amino Acid Substitution; Anticonvulsants; B

2017
A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
    Journal of the neurological sciences, 2003, Jun-15, Volume: 210, Issue:1-2

    Topics: Acetazolamide; Adult; Amino Acid Sequence; Anticonvulsants; Base Sequence; Calcium Channels; Cerebel

2003
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
    Journal of neurology, neurosurgery, and psychiatry, 1995, Volume: 59, Issue:4

    Topics: Acetazolamide; Adult; Cerebellar Ataxia; Chromosomes, Human, Pair 12; Electroencephalography; Electr

1995
Late onset familial periodic cerebellar ataxia.
    Movement disorders : official journal of the Movement Disorder Society, 1995, Volume: 10, Issue:2

    Topics: Acetazolamide; Age of Onset; Cerebellar Ataxia; Electroencephalography; Family; Female; Humans; Midd

1995
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
    Human molecular genetics, 1995, Volume: 4, Issue:2

    Topics: Acetazolamide; Cerebellar Ataxia; Chromosome Mapping; Chromosomes, Human, Pair 19; Family Health; Fe

1995
The electroencephalogram in acetazolamide-responsive periodic ataxia.
    Movement disorders : official journal of the Movement Disorder Society, 1996, Volume: 11, Issue:3

    Topics: Acetazolamide; Adolescent; Adult; Anticonvulsants; Cerebellar Ataxia; Cerebral Cortex; Electroenceph

1996
Acetazolamide responsiveness in familial hemiplegic migraine.
    Annals of neurology, 1996, Volume: 40, Issue:5

    Topics: Acetazolamide; Adult; Brain; Cerebellar Ataxia; Female; Hemiplegia; Humans; Magnetic Resonance Imagi

1996
[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case].
    Revista de neurologia, 1997, Volume: 25, Issue:148

    Topics: Acetazolamide; Anticonvulsants; Cerebellar Ataxia; Child; Chromosome Aberrations; Chromosome Disorde

1997
[A sporadic case of episodic ataxia with nystagmus (EA-2)].
    Rinsho shinkeigaku = Clinical neurology, 1998, Volume: 38, Issue:5

    Topics: Acetazolamide; Adult; Anticonvulsants; Calcium Channels; Cerebellar Ataxia; Humans; Male; Mutation;

1998
[Salicylism and glaucoma: reciprocal augmentation of the toxicity of acetazolamide and acetylsalicylic acid].
    Journal francais d'ophtalmologie, 1999, Volume: 22, Issue:1

    Topics: Acetazolamide; Acidosis; Anti-Inflammatory Agents, Non-Steroidal; Aspirin; Carbonic Anhydrase Inhibi

1999
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
    Neurology, 1999, Jul-13, Volume: 53, Issue:1

    Topics: Acetazolamide; Adult; Aged; Amino Acid Sequence; Amino Acid Substitution; Animals; Brain; Calcium Ch

1999
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.
    Annals of neurology, 1992, Volume: 31, Issue:2

    Topics: Acetazolamide; Adolescent; Adult; Cerebellar Ataxia; Cerebellum; Female; Humans; Hydrogen-Ion Concen

1992
Persistent superior oblique paresis as a manifestation of familial periodic cerebellar ataxia.
    The British journal of ophthalmology, 1991, Volume: 75, Issue:10

    Topics: Acetazolamide; Adolescent; Cerebellar Ataxia; Diplopia; Female; Humans; Male; Paralysis

1991
[Paroxysmal cerebellar ataxia--an evaluation using the findings from magnetic resonance imaging, positron emission tomography, and acetazolamide treatment].
    Rinsho shinkeigaku = Clinical neurology, 1990, Volume: 30, Issue:4

    Topics: Acetazolamide; Adult; Brain; Cerebellar Ataxia; Humans; Magnetic Resonance Imaging; Male; Oxygen Con

1990
Paroxysmal cerebellar ataxia.
    Australian and New Zealand journal of medicine, 1989, Volume: 19, Issue:2

    Topics: Acetazolamide; Adult; Cerebellar Ataxia; Child; Child, Preschool; Female; Humans; Male; Middle Aged;

1989
[Familial paroxysmal ataxia sensitive to acetazolamide. 3 cases in a new European family].
    Revue neurologique, 1985, Volume: 141, Issue:3

    Topics: Acetazolamide; Adult; Cerebellar Ataxia; Female; France; Humans; Male; Pedigree; Pregnancy; Pregnanc

1985