Literature DB >> 23677664

Acetazolamide-responsive ataxia.

Vikas Kotagal1.   

Abstract

Acetazolamide-responsive ataxia represents a unique collection of genetically distinct episodic ataxia (EA) disorders associated with paroxysmal cerebellar symptoms many of which are responsive to medical treatment with acetazolamide, a carbonic anhydrase inhibitor. Among all of the subtypes of episodic ataxia, types 2 (EA2), 3 (EA3), and 5 (EA5) are thought be the most medication responsive. Some patients with episodic ataxia type 1 (EA1) will also describe improvement with acetazolamide. Each of these individual genetic syndromes is characterized by its own unique mechanism and clinical presentation. In this review, the author provides an overview of the pathophysiology of acetazolamide-responsive ataxia, its natural history, and its clinical management. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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Year:  2013        PMID： 23677664     DOI： 10.1055/s-0033-1334475

Source DB:  PubMed          Journal:  Semin Neurol        ISSN： 0271-8235            Impact factor:   3.420


  10 in total

1.  Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Authors:  Catherine A Brownstein; Alan H Beggs; Lance Rodan; Jiahai Shi; Meghan C Towne; Renee Pelletier; Siqi Cao; Paul A Rosenberg; David K Urion; Jonathan Picker; Wen-Hann Tan; Pankaj B Agrawal
Journal:  Neurogenetics       Date:  2015-09-22       Impact factor: 2.660

Review 2.  The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.

Authors:  Stefan Kipfer; Michael Strupp
Journal:  Mov Disord Clin Pract       Date:  2014-07-28

Review 3.  Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature.

Authors:  Elan L Guterman; Brian Yurgionas; Alexandra B Nelson
Journal:  Neurology       Date:  2016-06-07       Impact factor: 9.910

4.  Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.

Authors:  S Kaja; A J Payne; E Ø Nielsen; C L Thompson; A M J M van den Maagdenberg; P Koulen; T P Snutch
Journal:  Neuroscience       Date:  2015-07-21       Impact factor: 3.590

5.  Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Authors:  Min-Jee Kim; Mi-Sun Yum; Go Hun Seo; Tae-Sung Ko; Beom Hee Lee
Journal:  Front Genet       Date:  2022-06-01       Impact factor: 4.772

6.  Acetazolamide potentiates the afferent drive to prefrontal cortex in vivo.

Authors:  Lezio S Bueno-Junior; Rafael N Ruggiero; Matheus T Rossignoli; Elaine A Del Bel; Joao P Leite; Osvaldo D Uchitel
Journal:  Physiol Rep       Date:  2017-01-13

Review 7.  Ataxia in children: early recognition and clinical evaluation.

Authors:  Piero Pavone; Andrea D Praticò; Vito Pavone; Riccardo Lubrano; Raffaele Falsaperla; Renata Rizzo; Martino Ruggieri
Journal:  Ital J Pediatr       Date:  2017-01-13       Impact factor: 2.638

Review 8.  Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology.

Authors:  Valentina Cerrato
Journal:  J Clin Med       Date:  2020-03-11       Impact factor: 4.241

Review 9.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

Review 10.  New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

Authors:  Maria Cristina D'Adamo; Sonia Hasan; Luca Guglielmi; Ilenio Servettini; Marta Cenciarini; Luigi Catacuzzeno; Fabio Franciolini
Journal:  Front Cell Neurosci       Date:  2015-08-19       Impact factor: 5.505
  10 in total

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