Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families

Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese family

“…The linkage study on an Italian family with PNKD by Fink et al in 1996 first mapped the disease allele to chromosome 2q [11], but the disease-causing gene was not identified until 2004 [2,3]. Up to now, less than 20 PNKD families with PNKD/MR-1 mutations have been reported, and most of them are of European origin [2][3][4][5][6][7][8][9][10]. Matsuo et al had reported linkage to chromosome 2q31-36 in a Japanese PNKD family with 17 affected but the responsible mutation has not been verified in them [12].…”

“…Recent genetic studies have identified the myofibrillogenesis regulator 1 (MR-1) gene, now designated as PNKD gene, on chromosome 2q35 as the genetic cause of familial PNKD [2,3]. The PNKD families with positive mutations reported so far were mostly delineated from European families and it has not been described in Orientals [4][5][6][7][8][9][10]. In the present study, we reported the clinical and genetic findings of a Taiwanese PNKD family with Chinese ethnicity and analyzed the genotype-phenotype correlations of 19 families.…”

Indentification of Novel Biomarkers for Paroxysmal Non- Kinesigenic Dyskinesia Diagnosis Via Cerebrospinal Fluid and Plasma Proteomic Analysis

“…PNKD is characterized by intermittent attacks with any combination of dystonia, chorea, athetosis or ballismus, which can be precipitated by stress, fatigue, coffee, alcohol and menstruation [1][2][3][4][5]. The disease is associated with single amino acid changes (A7V, A9V or A33P) in myofibrillogenesis regulator 1 (MR-1) on chromosome 2q35 which is the causative gene of PNKD [6][7][8][9][10]. We have previously reported the first large Chinese PNKD pedigree, and found a novel mutation of A7V on exon 1 of the PNKD/ MR-1 gene [11].…”

Successful Treatment of Disabling Paroxysmal Nonkinesigenic Dyskinesia with Deep Brain Stimulation of the Globus Pallidus Internus

“…Familial cases have been shown to respond to clonazepam and other benzodiazepines [2] and some case studies of successful treatment with levetiracetam were reported [8]. Deep brain stimulation (DBS) of the internal segment of the globus pallidus is now an accepted treatment modality in primary dystonia, myoclonic dystonia and some specific forms of secondary dystonia [9,10].…”