| 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 |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Nico Melzer; Joseph Classen; Karlheinz Reiners; Mathias Buttmann |
Related Documents
:
|
19009228 - Specificity of amino acid regulated gene expression: analysis of genes subjected to eit... 17498938 - Screening and distributing features of bacteria with hydantoinase and carbamoylase. 7260028 - Availability to pigs of amino acids in cereal grains. 2. apparent and true ileal availa... 18604198 - Regulation of torc1 by rag gtpases in nutrient response. 3092868 - Apparent in vivo retroconversion of dietary arachidonic to linoleic acid in essential f... 21858698 - Effect of phenolic compounds against aβ aggregation and aβ-induced toxicity in transg... |
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. |
Affiliation:
|
Department of Neurology, Julius Maximilian University, Würzburg, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acetazolamide
/
therapeutic use* Amino Acid Substitution Blepharoptosis / etiology Calcium Channels, N-Type / genetics* Carbonic Anhydrase Inhibitors / therapeutic use* Dose-Response Relationship, Drug Electrophysiology Female Functional Laterality / physiology Humans Middle Aged Muscle, Skeletal / drug effects, innervation*, physiology Point Mutation / genetics, physiology Spinocerebellar Ataxias / drug therapy*, physiopathology* Synaptic Transmission / physiology* |
| Chemical | |
Reg. No./Substance:
|
0/Calcium Channels, N-Type; 0/Carbonic Anhydrase Inhibitors; 0/voltage-dependent calcium channel (P-Q type); 59-66-5/Acetazolamide |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Why mesial temporal lobe epilepsy with hippocampal sclerosis is progressive: uncontrolled inflammati...
Next Document: Quantitative Evaluation of High Power Effect on 532 nm Laser Vaporization of Bovine Prostate In Vitr...