Psychiatric disorders in rapid-Onset dystonia-Parkinsonism

Allison Brashear, Jared F. Cook, Deborah F. Hill, Alethea Amponsah, Beverly M. Snively, Laney Light, Niki Boggs, Cynthia K. Suerken, Mark Stacy, Laurie Ozelius, Kathleen J. Sweadner, William Vaughn McCall

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1168-1173
Number of pages6
JournalNeurology
Volume79
Issue number11
DOIs
StatePublished - Sep 11 2012

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Psychiatry
Mutation
Substance-Related Disorders
Anxiety
Interviews
Dystonia
Missense Mutation
Activities of Daily Living
Diagnostic and Statistical Manual of Mental Disorders
Genes
Parkinson Disease
Comorbidity
Outcome Assessment (Health Care)
Dystonia 12
Depression
Morbidity
Gene Expression

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Brashear, A., Cook, J. F., Hill, D. F., Amponsah, A., Snively, B. M., Light, L., ... McCall, W. V. (2012). Psychiatric disorders in rapid-Onset dystonia-Parkinsonism. Neurology, 79(11), 1168-1173. https://doi.org/10.1212/WNL.0b013e3182698d6c

Psychiatric disorders in rapid-Onset dystonia-Parkinsonism. / Brashear, Allison; Cook, Jared F.; Hill, Deborah F.; Amponsah, Alethea; Snively, Beverly M.; Light, Laney; Boggs, Niki; Suerken, Cynthia K.; Stacy, Mark; Ozelius, Laurie; Sweadner, Kathleen J.; McCall, William Vaughn.

In: Neurology, Vol. 79, No. 11, 11.09.2012, p. 1168-1173.

Research output: Contribution to journalArticle

Brashear, A, Cook, JF, Hill, DF, Amponsah, A, Snively, BM, Light, L, Boggs, N, Suerken, CK, Stacy, M, Ozelius, L, Sweadner, KJ & McCall, WV 2012, 'Psychiatric disorders in rapid-Onset dystonia-Parkinsonism', Neurology, vol. 79, no. 11, pp. 1168-1173. https://doi.org/10.1212/WNL.0b013e3182698d6c
Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L et al. Psychiatric disorders in rapid-Onset dystonia-Parkinsonism. Neurology. 2012 Sep 11;79(11):1168-1173. https://doi.org/10.1212/WNL.0b013e3182698d6c
Brashear, Allison ; Cook, Jared F. ; Hill, Deborah F. ; Amponsah, Alethea ; Snively, Beverly M. ; Light, Laney ; Boggs, Niki ; Suerken, Cynthia K. ; Stacy, Mark ; Ozelius, Laurie ; Sweadner, Kathleen J. ; McCall, William Vaughn. / Psychiatric disorders in rapid-Onset dystonia-Parkinsonism. In: Neurology. 2012 ; Vol. 79, No. 11. pp. 1168-1173.
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abstract = "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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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, William Vaughn

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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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