Document Detail

Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q.
MedLine Citation:
PMID:  20663518     Owner:  NLM     Status:  MEDLINE    
We report on a 51-year-old woman with episodic ataxia type 2 (EA2) and a novel CaV2.1 C-terminal single amino acid substitution (R2090Q). She had a 4-year history of acute episodes with ataxia, hemihypesthesia and hemicrania. Furthermore, fluctuating neuromuscular transmission abnormalities rarely described in patients with EA2 were clinically and electrophysiologically documented in this patient. Upon initiation of acetazolamide treatment she experienced a dose-dependent severe increase of attack frequency and severity along with a shorter attack duration, while she responded well to subsequent therapy with 4-aminopyridine.
Nico Melzer; Joseph Classen; Karlheinz Reiners; Mathias Buttmann
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  296     ISSN:  1878-5883     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-04     Completed Date:  2010-11-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  104-6     Citation Subset:  IM    
Copyright Information:
2010 Elsevier B.V. All rights reserved.
Department of Neurology, Julius Maximilian University, Würzburg, Germany.
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MeSH Terms
Acetazolamide / therapeutic use*
Amino Acid Substitution
Blepharoptosis / etiology
Calcium Channels, N-Type / genetics*
Carbonic Anhydrase Inhibitors / therapeutic use*
Dose-Response Relationship, Drug
Functional Laterality / physiology
Middle Aged
Muscle, Skeletal / drug effects,  innervation*,  physiology
Point Mutation / genetics,  physiology
Spinocerebellar Ataxias / drug therapy*,  physiopathology*
Synaptic Transmission / physiology*
Reg. No./Substance:
0/Calcium Channels, N-Type; 0/Carbonic Anhydrase Inhibitors; 0/voltage-dependent calcium channel (P-Q type); 59-66-5/Acetazolamide

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