The paroxysmal dyskinesias are a challenging group of movement disorders characterised by painless dystonic and/or choreiform movements. Lack of familiarity with their features and a normal neurological examination between attacks frequently cause diagnostic delays, or even the diagnosis of a non-organic disorder. They are classified by their mode of triggering, and also by the duration and frequency of attacks, effectiveness of medication, and any associated syndromes. Four subtypes are recognised: paroxysmal kinesigenic dyskinesia induced by sudden movement; paroxysmal non-kinesigenic dyskinesia precipitated by for instance alcohol or caffeine; paroxysmal exercise-induced dyskinesia triggered by longer lasting activity; and paroxysmal hypnogenic dyskinesia occurring during sleep. Here we will summarise the characteristics of the subtypes, discuss the differential diagnosis, genetic aspects and pathophysiology, and give practical advice on the diagnostic work-up and treatment.
"Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of involuntary dystonia and/or chorea triggered by sudden movement. Most of the reported cases of PKD are familial and inherited in an autosomal dominant trait  . In a number of PKD pedigrees, patients and/or family members report infantile convulsions that fit the description of benign familial infantile seizures (BFIS) . "
[Show abstract][Hide abstract] ABSTRACT: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
"Most (40–70%) were familial cases in which PKC was transmitted in an autosomal dominant mode of inheritance with incomplete penetrance (Tomita et al. 1999; Valente et al. 2000). Males are affected more often than females, with an estimated ratio of 3–4:1 (Bhatia 1999). "
[Show abstract][Hide abstract] ABSTRACT: Paroxysmal kinesigenic choreoathetosis (PKC) is a paroxysmal movement disorder of unknown cause. Although the PKC-critical region (PKCCR) has been assigned to the pericentromeric region of chromosome 16 by several studies of families from various ethnic backgrounds, the causative gene has not yet been identified. In the present study, we performed linkage and haplotype analysis in four new families with PKC, as well as an intensive polymerase chain reaction (PCR) based mutation analysis in seven families for a total of 1,563 exons from 157 genes mapped around the PKCCR. Consequently, the linkage/haplotype analysis revealed that PKC was assigned to a 24-cM segment between D16S3131 and D16S408, the result confirming the previously defined PKCCR, but being unable to narrow it down. Although the mutation analysis of the 157 genes was unsuccessful at identifying any mutations that were shared by patients from the seven families, two nonsynonymous substitutions, i.e., 6186C>A in exon 3 of SCNN1G and 45842A>G in exon 29 of ITGAL, which were segregated with the disease in Families C and F, respectively, were not observed in more than 400 normal controls. Thus, one of the two genes, SCNN1G and ITGAL, could be causative for PKC, but we were not able to find any other mutations that explain the PKC phenotype.
Journal of Human Genetics 02/2007; 52(4):334-41. DOI:10.1007/s10038-007-0116-7 · 2.46 Impact Factor
"Treatment In contrast to PKND, PKD respond excellent to anticonvulsant treatment [Mink, 2007; Jankovic and Demirkiran, 2002; Bhatia, 1999]. Carbamazepine is reported to be effective in the majority of patients [Demirkiran and Jankovic, 1995]. "
[Show abstract][Hide abstract] ABSTRACT: Paroxysmal dyskinesias are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between attacks. Three main types of paroxysmal dyskinesias can be distinguished based upon their precipitating events – (i) paroxysmal non-kinesiogenic dyskinesias (PNKD), (ii) paroxysmal kinesiogenic dyskinesias (PKD) and (iii) paroxysmal exercise-induced (exertion- induced) dyskinesias (PED). All three have to be clearly differentiated from non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders. We describe a woman who suffered from paroxysmal kinesiogenic dyskinesia and elucidate the clinical characteristics and differential diagnosis of these paroxysmal disorders.
Zeitschrift für Epileptologie 01/2007; 20(3). DOI:10.1007/s10309-007-0262-0
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