Paroxysmal Kinesigenic Choreoathetosis and Abnormal Contingent Negative Variation

Franssen, Hessel

doi:10.1001/archneur.1983.04050060081016

Cited by 27 publications

(4 citation statements)

References 45 publications

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“…The association in the proband of attacks of both paroxysmal ataxia and kinesigenic choreoathetosis is unique and suggests a possible etiologic link between these two conditions. The proband's dystonic attacks resembled previously reported cases of paroxysmal kinesigenic choreoathetosis (PKC) (16)(17)(18)(19) 2). In these reports, the attacks were more prolonged and not clearly triggered by movement.…”

Section: Discussionsupporting

confidence: 81%

Autosomal dominant episodic ataxia: A heterogeneous syndrome

1986

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We describe six kindreds with autosomal dominant episodic ataxia, apparently representing three distinct syndromes. Four kindreds were characterized by episodic ataxia and response to acetazolamide, and in three, interictal nystagmus. One kindred was characterized by paroxysmal ataxia and in one member, paroxysmal choreoathetosis. The last kindred had brief attacks of ataxia and interictal neuromyotonia. The age of onset and severity of the disorder varied within each kindred. These kindreds illustrate the heterogeneity of episodic ataxia as well as the variable expressivity within each kindred.

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Section: Discussionsupporting

confidence: 81%

Autosomal dominant episodic ataxia: A heterogeneous syndrome

1986

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“…Franssen et al [9] reported abnormalities of contingent negative variation which normalised with phenytoin therapy in one patient with PKC. This suggested to these investigators a possible functional disturbance in certain parts of the mediothalamic-prefrontocortical nucleus reticularis thalami system which is involved in non-specific arousal responses in the prefrontal cortex.…”

Section: Discussionmentioning

confidence: 97%

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Bhatia

et al. 1999

Journal of Neurology

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Paroxysmal kinesigenic choreoathetosis (PKC) is a neurological condition which results in abnormal involuntary movements that are precipitated by sudden movement. Because of its rarity, large case series of PKC have not been published. We studied 26 patients with PKC, which represents the largest series thus reported. We reviewed our cases with respect to attack characteristics, aetiology, family history, and treatment response. Our population consisted of 23 men and 3 women. Seven patients had a family history of paroxysmal dyskinesia. None of our patients had clear evidence of symptomatic PKC. Two-thirds of our patients had attacks lasting between 30-60 s, and over one-half experienced one to ten attacks per day. Attack distribution varied widely, and most experienced pure dystonia rather than choreodystonic movements. Most patients responded very well to anticonvulsant therapy. We also report the PET results from two of our patients and Bereitschaftspotential abnormalities recorded from two others.

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“…There has been support for the extrapyramidal theory suggested by Kertesz [4] based on special electrophysiological studies in PKC done in one case by Franssen et al [23], who reported abnormalities of contingent negative variation (CNV), which normalized with phenytoin therapy in one patient with PKC. This suggested to them a possible functional disturbance of the prefrontal basal ganglia circuit.…”

Section: Pathophysiology Of Pkcmentioning

confidence: 91%

The paroxysmal dyskinesias

Bhatia

1999

Journal of Neurology

111

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The clinical, pathophysiological and genetic features of some of the paroxysmal movement disorders are reviewed. Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is a condition in which brief and frequent dyskinetic attacks are provoked by sudden movement. PKC is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. The pathophysiology of PKC is uncertain but it could be an ion-channel disorder. Antiepileptic drugs particularly carbamazepine are very helpful in a large proportion of cases. Paroxysmal exercise induced dystonia (PED) is a rare disorder manifesting as episodes of dystonia mostly affecting the feet induced by continuous exercise like walking or running. Although the initial cases were familial, there is a higher proportion of sporadic cases. The pathophysiology of PED is unknown and antiepileptic drugs are generally unhelpful. In paroxysmal dystonic choreoathetosis/non-kinesigenic dyskinesias (PDC/PNKD) the attacks are of long duration and induced by variety of factors including coffee, tea, alcohol and fatigue but not by sudden movement. PDC can be idiopathic (familial or sporadic) or symptomatic due to a variety of causes. The gene for familial PDC has been linked in 2 families to chromosome 2 q close to a cluster of ion channel genes again suggesting that this disorder may also be a channelopathy. Other paroxysmal disorders include paroxysmal nocturnal dyskinesia, a form of frontal lobe epilepsy in some cases which may be familial with autosomal dominant inheritance (ADNFLE). The gene for ADNFLE in one family has been found to be a mutation in the neuronal acetylcholine receptor gene (CHRNA4) on chromosome 20q. Tonic spasms in multiple sclerosis and Sandiffers syndrome producing intermittent torticollis in infants and children are other paroxysmal movement disorders.

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Paroxysmal Kinesigenic Choreoathetosis and Abnormal Contingent Negative Variation

Cited by 27 publications

References 45 publications

Autosomal dominant episodic ataxia: A heterogeneous syndrome

Autosomal dominant episodic ataxia: A heterogeneous syndrome

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

The paroxysmal dyskinesias

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