Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. (30th January 2013)

• Record Type: Journal Article
• Authors: Silveira‐Moriyama, Laura; Gardiner, Alice R; Meyer, Esther; King, Mary D; Smith, Martin; Rakshi, Karl; Parker, Alasdair; Mallick, Andrew A; Brown, Richard; Vassallo, Grace; Jardine, Philip E; Guerreiro, Marilisa M; Lees, Andrew J; Houlden, Henry; Kurian, Manju A
• Is Part Of: Developmental medicine & child neurology. Volume 55:Number 4(2013:Apr.)
• Page Start: 327
• Page End: 334
• Publication Date: 2013-01-30
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.12056
• Languages: English
• ISSNs: 0012-1622

Abstract

<abstract abstract-type="main" id="dmcn12056-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="dmcn12056-sec-0001" sec-type="section"> <title>Aim</title> <p>To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the <italic>PRRT2</italic> gene presenting in the paediatric age group.</p> </sec> <sec id="dmcn12056-sec-0002" sec-type="section"> <title>Method</title> <p>We report the detailed clinical and molecular genetic features of 11 patients (six females, five males) with childhood‐onset <italic>PRRT2‐</italic>mutation‐positive PKD.</p> </sec> <sec id="dmcn12056-sec-0003" sec-type="section"> <title>Results</title> <p>Mean age at disease onset was 8 years 7.5 months (range 5–11y), and clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. Most patients also had non‐kinesigenic attacks in addition to the classical movement‐induced paroxysmal episodes. One family demonstrated great phenotypic variability with PKD, infantile convulsions, and/or hemiplegic migraine affecting different family members with the same mutation. All patients in whom antiepileptics (carbamazepine/phenytoin) were tried showed a dramatic improvement with complete abolition of dyskinetic episodes.</p> </sec> <sec id="dmcn12056-sec-0004" sec-type="section"> <title>Interpretation</title> <p>Our case series provides a detailed clinical description of patients with <italic>PRRT2‐</italic>PKD, and reports a spectrum of disease‐causing mutations, thereby expanding both the clinical phenotype and mutation spectrum of disease.</p> </sec> </abstract>