title: Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.
abstract: The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR-1), which causes an alanine-to-valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age-dependent incremental-decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120-180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe ( approximately 15-30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.
authors.affiliation: Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro.
authors.forename: Elka
authors.initials: E
authors.lastname: Stefanova
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Dragana
authors.initials: D
authors.lastname: Momcilović
authors.forename: Natasa
authors.initials: N
authors.lastname: Dragasević
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
mesh_terms: D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000235:genetics; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D014633:Valine / Q000235:genetics; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D009124:Muscle Proteins; C495444:PNKD protein, human; D014633:Valine; D000409:Alanine