Paroxysmal kinesigenic choreoathetosis: Report of a case relieved by L-dopa

Loong, Susan; Ong, Yee Yian

doi:10.1136/jnnp.36.6.921

Cited by 41 publications

(7 citation statements)

References 14 publications

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“…Many authors believe that PKC is related to basal ganglia disease, noting that abnormal basal ganglia metabolism has been demonstrated by PET during attacks [32], that symptomatic PKC occurs in conditions known to affect basal ganglia function [2, 30,27], and that some PKC patients respond to levodopa [25]. Perlmutter and Raichle [32] reported PET abnormalities in the left basal ganglia in a patient who developed symptomatic paroxysmal right hemidystonia after minor trauma to his head and neck.…”

Section: Discussionmentioning

confidence: 99%

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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Section: Discussionmentioning

confidence: 99%

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Bhatia

et al. 1999

Journal of Neurology

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“…Other relevant findings in patients with PKC include an absence of attacks during sleep and an absence of EEG abnormalities. [19][20][21] The age-related clinical course of PKC suggests that this disease may be related to the age-related developmental changes of the nigrostriatal dopamine neurons. 22 However, there is no evidence suggesting that PKC is of extrapyramidal genesis.…”

Section: Discussionmentioning

confidence: 99%

Multicenter study of paroxysmal dyskinesias in Japan?Clinical and pedigree analysis

Nagamitsu

Matsuishi

Hashimoto³

et al. 1999

Mov. Disord.

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“…[4,131] Nevertheless, as early as in the 1970s this theory was disputed with some patients with the PKD phenotype responding to levodopa administration. [132] Pathophysiological considerations aside, PKD remains very sensitive to antiepileptic drug therapy, with multiple agents reported efficacious, in particular those that modulate activity of the sodium channels. Arguably, the use of low dose (10mg/kg/day) carbamazepine as first line therapy is more a by-product of time-honored empirical evidence than comparative effectiveness to other agents.…”

Section: Empiric Therapymentioning

confidence: 99%

Paroxysmal movement disorders – practical update on diagnosis and management

Gusmão

Silveira-Moriyama

2019

Expert Review of Neurotherapeutics

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Introduction: Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell membrane and synaptic function. Despite the exponential increase in publications of genetically confirmed cases, management remains largely clinical based on non-systematic evidence. Areas covered: We provide a historical and clinical review of the main types of paroxysmal dyskinesias and episodic ataxias, with recommendations for diagnosis and management of patients suffering from these conditions. Expert opinion: After secondary paroxysmal dyskinesias, the most common paroxysmal movement disorders are likely to be PRRT2-associated paroxysmal kinesigenic dyskinesias, which respond well to small doses of carbamazepine, and episodic ataxia type 2, which often responds to acetazolamide. Familial paroxysmal non-kinesigenic dyskinesias are largely caused by mutations in PNKD and have poor response to therapy but improve with age. Exercise-induced dyskinesias are genetically heterogeneous, caused by disorders of glucose transport, mitochondrial function, dopaminergic pathways or neurodegenerative conditions amongst others. GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. Although a therapeutic trial is justified for classic cases and in limited resource settings, genetic testing may help direct initial or rescue therapy. Deep brain stimulation may be an option for severe cases.

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Paroxysmal kinesigenic choreoathetosis: Report of a case relieved by L-dopa

Cited by 41 publications

References 14 publications

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Multicenter study of paroxysmal dyskinesias in Japan?Clinical and pedigree analysis

Paroxysmal movement disorders – practical update on diagnosis and management

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