Abstract Details

Title Dopa-Responsive Paroxysmal Nonkinesigenic Dyskinesia (PNKD)

Topic Movement Disorders

Presentation(s) P07 - (-)

Poster/Presentation
Number 217

Objective

Background BACKGROUND: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare episodic hyperkinetic movement disorder in which the attacks are not induced by sudden movement, but rather precipitated by alcohol, caffeine, or emotional excitement. The onset is usually in early childhood, but rare in infancy. In primary PNKD, a genetic mutation of the myofibrillogenesis regulator-1 (MR-1) was found on chromosome 2q33-35. Other loci on 2q31 have also been described.

Design/Methods DESIGN/METHODS: A 7-year-old Caucasian female developed frequent episodes of involuntary movements at age 9 months consisting of right arm abduction at shoulder, extension at elbow and left arm adduction at shoulder, flexion at elbow and twisting of ankles with fully preserved consciousness. The attacks were not precipitated by sudden movements or exercise and occurred about 5 times per hour lasting for 1 to 5 minutes. Her neurological examination, blood metabolic panels, and MRI brain were normal. She was initially thought to have frontal lobe epilepsy but failed to respond to the antiepileptic medications including oxcarbazepine, topiramate and clonazepam. Video EEG monitoring revealed the involuntary movements to be non-epileptic. Genetic tests for DYT1, Dopa-responsive dystonia were negative; MR-1 gene is awaited.

Results RESULTS: She was diagnosed as PNKD. Since she had not responded to clonazepam, she was started on carbidopa/levodopa 25/100 mg bid. She responded with complete cessation of the episodes initially for a year and then started to have occasional episodes if a dose was missed. She has been followed for four years and continues to respond well.

Conclusions CONCLUSIONS: PNKD patients especially those with the MR-1 gene mutation usually respond to clonazepam. We report PNKD with onset in infancy unresponsive to clonazepam with a good response to levodopa. The responsiveness of PNKD to levodopa has not been systematically evaluated and merits further study.

Authors/Disclosures
Pornpimol Anprasertporn, MD (Saint Luke Neurology) PRESENTER	No disclosure on file
Melissa Armstrong, MD, MSc, FAAN, FAAN (UF Department of Neurology)	The institution of Dr. Armstrong has received research support from National Institutes of Health. The institution of Dr. Armstrong has received research support from Florida Department of Health. The institution of Dr. Armstrong has received research support from Lewy Body Dementia Association. The institution of Dr. Armstrong has received research support from The Michael J. Fox Foundation. Dr. Armstrong has received personal compensation in the range of $5,000-$9,999 for serving as a DSMB member with Alzheimer's Clinical Trials Consortium. Dr. Armstrong has received personal compensation in the range of $5,000-$9,999 for serving as a DSMB member with Alzheimer's Disease Cooperative Study. Dr. Armstrong has received personal compensation in the range of $500-$4,999 for serving as a DSMB member with National Institutes of Health. Dr. Armstrong has a non-compensated relationship as a Member, Scientific Advisory Council with Lewy Body Dementia Association that is relevant to AAN interests or activities.
Kalyan K. Shastri, MD	No disclosure on file
Pratap R. Chand, MD, FRCP, FAAN (St Louis University School of Medicine)	Dr. Chand has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Boston Scientific. An immediate family member of Dr. Chand has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acorda. Dr. Chand has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Teva Neuroscience.

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