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The recent article by Chen et al¹ caught our attention as a third study associating mutations in the myofibrillogenesis regulator 1 gene with paroxysmal nonkinesigenic dyskinesia (PNKD). Currently, a total of 12 kindreds with only 2 missense mutations (A7V and A9V) have been reported.^1-3 Family records were collected in various centers across the United States; their origins, if mentioned, are European. Hence, it appears that the spectrum of mutations responsible for PNKD is limited, and Chen et al suggest that this may have implications for genetic testing approaches.

Supporting this notion, we recently discovered the A9V mutation in a 15-year-old patient with PNKD that started in infancy. Provoking factors were stress, hunger, and fatigue. The attacks (5-10 per month) consisted of mildly painful dystonic movements of the extremities and lasted about 15 minutes. This patient belongs to a large family with 12 additional affected members in 5 successive generations, who . . . [Full Text of this Article]

AUTHOR INFORMATION

Ana Djarmati, MSc; Marina Svetel, MD; Dragana Momilovi, MD; Vladimir Kosti, MD; Christine Klein, MD

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