TY - JOUR
T1 - Psychiatric disorders in rapid-Onset dystonia-Parkinsonism
AU - Brashear, Allison
AU - Cook, Jared F.
AU - Hill, Deborah F.
AU - Amponsah, Alethea
AU - Snively, Beverly M.
AU - Light, Laney
AU - Boggs, Niki
AU - Suerken, Cynthia K.
AU - Stacy, Mark
AU - Ozelius, Laurie
AU - Sweadner, Kathleen J.
AU - McCall, W. Vaughn
N1 - Funding Information:
A. Brashear has salary support from NINDS (this project); performs research for Allergan, Merz USA, and Ipsen; and consults for Allergan, Merz USA and Ipsen. Her conflict of interest is being managed by Wake Forest University School of Medicine. J. Cook, D. Hill, A. Amponsah, B. Snively, L. Light, N. Boggs, and C. Suerken receive salary support from NINDS 5R01-NS058949-04. M. Stacy has received a grant/research support from Ceregene, IMPAX, Neuraltus, Novartis, Schering-Plough, and Parkinson Study Group; has acted as a consultant for Allergan, Biogen, GE, Novartis, Osmotica, TEVA, and Synosia; has received honoraria from Allergan, Boeringher-Ingelheim, Novartis, and TEVA; and is also on the Safety Monitoring Board for Biogen and Neurologix. His conflict of interest is being managed by Duke University. He is a consultant on this project. L. Ozelius receives salary support from the NIH [NS046340, NS058949, NS037409, RR026123] and has received previous grant support from the Bachmann-Strauss Dystonia and Parkinson Foundation and The Dystonia Medical Research Foundation. She is a current member of the scientific advisory boards of the National Spasmodic Dysphonia Association and the Benign Essential Blepharospasm Research Foundation and a past member of the scientific advisory boards of the Bachmann-Strauss Dystonia and Parkinson Foundation and The Dystonia Medical Research Foundation. Dr. Ozelius receives royalty payments from Athena Diagnostics related to a patent. Athena has supported one Grand Rounds given by Dr. Ozelius. K. Sweadner has salary support from NINDS (R01 NS050696 [PI] and R01 NS058949 [co-investigator]) and the DoD (PR100747) and has received research support from the Bachmann Strauss Dystonia and Parkinson Foundation. W. McCall's research has been supported by NIMH, Cephalon, and Sealy. He has been on the speaker's bureau for Merck and Sepracor and is a scientific advisor for Sepracor, Sealy, and Merck. His conflict of interest is being managed by Wake Forest University School of Medicine. Go to Neurology.org for full disclosures.
PY - 2012/9/11
Y1 - 2012/9/11
N2 - Objective: Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although systematic examination of psychiatric disease in individuals with RDP is lacking. This study examines psychiatric morbidity for 23 patients with RDP in 10 families with family member control subjects and in 3 unrelated patients with RDP, totaling 56 individuals. Methods: Twenty-nine ATP1A3 mutation-positive individuals were examined; 26 exhibited motor symptoms (motor manifesting carrier [MMC]) and 3 did not (nonmotor manifesting carriers [NMC]). Twenty-seven ATP1A3 mutation-negative participants (noncarriers [NC]) were included. Rates of psychiatric illness for patients with RDP and related asymptomatic gene mutation carriers were compared with those for related nonmutation carriers. Outcome measures included the Unified Parkinson's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale, Instrumental Activities of Daily Living, Composite International Diagnostic Interview, Structured Clinical Interview for DSM-IV, Hamilton Depression Scale, Hamilton Anxiety Scale, and Yale-Brown Obsessive-Compulsive Scale. Results: NMC participants did not report any history of psychiatric disorder. Findings in MMC and NC groups included anxiety (MMC 48%, NC 41%), mood (MMC 50%, NC 22%), psychotic (MMC 19%, NC 0%), and substance abuse/dependence (MMC 38%, NC 27%). Conclusions: ATP1A3 mutations cause a wide spectrum of motor and nonmotor features. Psychotic symptoms tended to emerge before or concurrent with motor symptom onset, suggesting that this could be another expression of the ATP1A3 gene mutation.
AB - Objective: Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although systematic examination of psychiatric disease in individuals with RDP is lacking. This study examines psychiatric morbidity for 23 patients with RDP in 10 families with family member control subjects and in 3 unrelated patients with RDP, totaling 56 individuals. Methods: Twenty-nine ATP1A3 mutation-positive individuals were examined; 26 exhibited motor symptoms (motor manifesting carrier [MMC]) and 3 did not (nonmotor manifesting carriers [NMC]). Twenty-seven ATP1A3 mutation-negative participants (noncarriers [NC]) were included. Rates of psychiatric illness for patients with RDP and related asymptomatic gene mutation carriers were compared with those for related nonmutation carriers. Outcome measures included the Unified Parkinson's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale, Instrumental Activities of Daily Living, Composite International Diagnostic Interview, Structured Clinical Interview for DSM-IV, Hamilton Depression Scale, Hamilton Anxiety Scale, and Yale-Brown Obsessive-Compulsive Scale. Results: NMC participants did not report any history of psychiatric disorder. Findings in MMC and NC groups included anxiety (MMC 48%, NC 41%), mood (MMC 50%, NC 22%), psychotic (MMC 19%, NC 0%), and substance abuse/dependence (MMC 38%, NC 27%). Conclusions: ATP1A3 mutations cause a wide spectrum of motor and nonmotor features. Psychotic symptoms tended to emerge before or concurrent with motor symptom onset, suggesting that this could be another expression of the ATP1A3 gene mutation.
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U2 - 10.1212/WNL.0b013e3182698d6c
DO - 10.1212/WNL.0b013e3182698d6c
M3 - Article
C2 - 22933743
AN - SCOPUS:84867512555
SN - 0028-3878
VL - 79
SP - 1168
EP - 1173
JO - Neurology
JF - Neurology
IS - 11
ER -