Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

Lubbers, W. J.; Brunt, Ewout; Scheffer, Hans; Litt, M.; Stulp, Rein P.; Browne, D.L.; Weerden, T. W. van

doi:10.1136/jnnp.59.4.400

Cited by 71 publications

(46 citation statements)

References 14 publications

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“…In EA1 myokymia has been shown to be of multifocal peripheral nerve origin, possibly caused by spontaneous or prolonged axonal depolarization. 24 The positive responses to propranolol and acetazolamide in this family are of therapeutic interest but relatively nonspecific. Acetazolamide could produce a mild alkalosis, which is known to improve myokymia.…”

Section: Discussionmentioning

confidence: 99%

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Fernandez

Raskind

Wolff

et al. 2001

Annals of Neurology

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We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10 males and 8 females) with FDFM. The disorder has an early childhood or adolescent onset. The involuntary movements are paroxysmal at early ages, increase in frequency and severity, and may become constant in the third decade. Thereafter, there is no further deterioration, and there may even be improvement in old age. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in lifespan. A candidate gene and haplotype analysis was performed in 9 affected and 3 unaffected members from 3 generations of this family using primers for polymorphic loci closely flanking or within genes of interest. We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine. Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.

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Section: Discussionmentioning

confidence: 99%

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Fernandez

Raskind

Wolff

et al. 2001

Annals of Neurology

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“…28 In some patients, a myokymic EMG is evident after the application of regional ischemia. 40 Laboratory blood tests including creatine kinase are not affected by EA-1. A muscle biopsy is generally unhelpful in aiding diagnosis.…”

Section: Diagnosis Of Ea-1mentioning

confidence: 98%

“…Recently, a 10-year-old girl with EA-1 was found to have distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness lasting up to 12 hours. 39 There is also heterogeneity in the response to treatment 40 with some kindreds being particularly resistant to drugs.…”

Section: Clinical Featuresmentioning

confidence: 99%

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Episodic Ataxia Type 1: A Neuronal Potassium Channelopathy

et al. 2007

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Summary: Episodic ataxia type 1 is a paroxysmal neurological disorder characterized by short-lived attacks of recurrent midline cerebellar dysfunction and continuous motor activity. Mutations in KCN1A, the gene encoding Kv1.1, a voltage-gated neuronal potassium channel, are associated with the disorder. Although rare, the syndrome highlights the fundamental features of genetic ion-channel diseases and serves as a useful model for understanding more common paroxysmal disorders, such as epilepsy and migraine. This review examines our current understanding of episodic ataxia type 1, focusing on its clinical and genetic features, pathophysiology, and treatment.

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“…During and between attacks, patients with EA1 can have myokymia, manifesting clinically as intermittent cramps, stiffness, twitching, or rippling muscles. 9 More sustained abnormal muscle contractions may also occur and are referred to as neuromyotonia, resembling carpopedal spasms when present in the distal limbs. 4 Paroxysmal ataxia may remit in the second decade, but myokymia can be lifelong and disabling in some affected individuals.…”

mentioning

confidence: 99%

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

et al. 2007

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Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1.

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Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

Cited by 71 publications

References 14 publications

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Episodic Ataxia Type 1: A Neuronal Potassium Channelopathy

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

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