Literature DB >> 1564484

Familial paroxysmal ataxia: report of a family.

C H Hawkes1.   

Abstract

Three cases from one kindred who suffer from dominant paroxysmal ataxia are described. This is a rare benign non-progressive disorder of childhood onset, characterised by bouts of ataxia with abrupt onset lasting minutes or hours. Cases may be identified on the basis of a suggestive history, nystagmus persisting between episodes, and dominant inheritance. Treatment with acetazolamide is often dramatically effective. This family is thought to be the first described in the UK but many more probably exist, mislabelled as epilepsy or migraine.

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Year:  1992        PMID: 1564484      PMCID: PMC1014729          DOI: 10.1136/jnnp.55.3.212

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  14 in total

1.  Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.

Authors:  T W FARMER; V M MUSTIAN
Journal:  Arch Neurol       Date:  1963-05

2.  Magnetic resonance imaging in familial paroxysmal ataxia.

Authors:  A Vighetto; J C Froment; M Trillet; G Aimard
Journal:  Arch Neurol       Date:  1988-05

3.  Familial periodic nystagmus, vertigo, and ataxia.

Authors:  J C White
Journal:  Arch Neurol       Date:  1969-03

4.  Familial periodic ataxia responsive to acetazolamide.

Authors:  J P Bouchard; C Roberge; N M van Gelder; A Barbeau
Journal:  Can J Neurol Sci       Date:  1984-11       Impact factor: 2.104

5.  Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.

Authors:  I R Livingstone; D Gardner-Medwin; R J Pennington
Journal:  J Neurol Sci       Date:  1984-04       Impact factor: 3.181

6.  [Familial paroxysmal ataxia responsive to acetazolamide].

Authors:  G Aimard; A Vighetto; M Trillet; J J Ventre; M Devic
Journal:  Rev Neurol (Paris)       Date:  1983       Impact factor: 2.607

7.  [Familial paroxysmal ataxia sensitive to acetazolamide. 3 cases in a new European family].

Authors:  M Trillet; M Gouttard; B Schott
Journal:  Rev Neurol (Paris)       Date:  1985       Impact factor: 2.607

8.  Acetazolamide-responsive episodic ataxia syndrome.

Authors:  N L Zasorin; R W Baloh; L B Myers
Journal:  Neurology       Date:  1983-09       Impact factor: 9.910

9.  Autosomal dominant episodic ataxia: a heterogeneous syndrome.

Authors:  S T Gancher; J G Nutt
Journal:  Mov Disord       Date:  1986       Impact factor: 10.338

10.  A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.

Authors:  S F Reynolds; J Blass
Journal:  Neurology       Date:  1976-07       Impact factor: 9.910

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  3 in total

Review 1.  Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

Authors:  Sanjeev Rajakulendran; Diego Kaski; Michael G Hanna
Journal:  Nat Rev Neurol       Date:  2012-01-17       Impact factor: 42.937

Review 2.  The cerebellum and migraine.

Authors:  Maurice Vincent; Nouchine Hadjikhani
Journal:  Headache       Date:  2007-06       Impact factor: 5.887

Review 3.  Episodic ataxia type 2.

Authors:  Michael Strupp; Andreas Zwergal; Thomas Brandt
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

  3 in total

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