Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in
            <i>SGCE</i>
            mutation carriers

Hess, Christopher W.; Raymond, Deborah; Aguiar, Patrícia Maria de Carvalho; Frucht, Steven J.; Shriberg, Janet; Heiman, Gary A.; Kurlan, Roger; Klein, Christine; Bressman, Susan; Ozelius, Laurie J.; Saunders‐Pullman, Rachel

doi:10.1212/01.wnl.0000253188.76092.06

Cited by 99 publications

(76 citation statements)

References 10 publications

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“…There is a range of inherited movement disorders where psychiatric disorders are part of the phenotypic spectrum of the genetic mutation 25. In myoclonus–dystonia, higher rates of obsessive–compulsive disorder and alcohol dependence were found in SGCE mutation carriers 21 22. This example illustrates that psychiatric disorders may be linked to the same genetic abnormality that is associated with a distinct movement disorder.…”

Section: Discussionmentioning

confidence: 87%

See 1 more Smart Citation

Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles

Lencer

Steinlechner

Stahlberg

et al. 2009

Journal of Neurology, Neurosurgery & Psychiatry

110

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Section: Discussionmentioning

confidence: 87%

“…Interestingly, results from genetic studies suggest that there may be an additional neurobiological factor predisposing to substance related disorders in PFD 21 22…”

Section: Discussionmentioning

confidence: 99%

Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles

Lencer

Steinlechner

Stahlberg

et al. 2009

Journal of Neurology, Neurosurgery & Psychiatry

110

View full text Add to dashboard Cite

show abstract

“…The CIDI-Auto was previously used in a study of psychiatric comorbidity in patients with DYT1 primary dystonia. 6,7 The CIDI is a fully structured interview used by the World Health Organization as a standardized method of establishing diagnoses according to ICD-10 and DSM-IIIR definitions. It was intended to minimize clinical judgment and interviewer bias in establishing diagnoses.…”

mentioning

confidence: 99%

Psychiatric disorders in rapid-onset dystonia-parkinsonism

et al. 2012

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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.

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“…Non-manifest mutation carriers did not show elevated frequencies of OCD compared with controls. Hess et al (2007)42 added two more families to the Saunders–Pullman data and corroborated the original findings of OCD comorbidity in the manifest mutation carriers compared with controls.…”

Section: Resultsmentioning

confidence: 63%

Relationship between movement disorders and obsessive–compulsive disorder: beyond the obsessive–compulsive–tic phenotype. A systematic review

Fibbe

Cath

Heuvel

et al. 2012

J Neurol Neurosurg Psychiatry

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Background Obsessiveecompulsive disorder (OCD) and symptoms (OC symptoms) are associated with tic disorders and share an aetiological relationship. The extent to which OCD/OC symptoms are correlated with other hyperkinetic movement disorders is unclear. The aim of this review was to investigate this co-occurrence and the extent to which OCD/OC symptoms and hyperkinetic movement disorders share a neurobiological basis. Methods A systematic review was performed, specifically searching for OCD/OC symptom comorbidity in hyperkinetic movement disorders using case control studies, longitudinal studies and family based studies. The literature search was conducted using PubMed and PsycINFO databases. Results Heterogeneity of measurement instruments to detect OCD diagnosis and OC symptoms decreased comparability between studies. The most convincing evidence for a relationship was found between the choreas (Huntington's disease and Sydenham's chorea) and OCD/OC symptoms. Furthermore, elevated frequencies of OC symptoms were found in small case control series of dystonias. Small family based studies in dystonia subtypes modestly suggest shared familial/ genetic relationships between OC symptoms and dystonia. Conclusion Current data indicate a relationship between OCD/OC symptoms and the choreas. As OCD and the choreas have been associated with dysfunctional frontalestriatal circuits, the observed relationships might converge at the level of dysfunctions of these circuits. However, paucity of longitudinal and family studies hampers strong conclusions on the nature of the relationship. Implications The relationship between OCD and movement disorders needs further elaboration using larger family based longitudinal studies and sound instruments to characterise OC symptomatology. This could lead to better understanding of the shared pathology between OCD and hyperkinetic movement disorders.

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Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

Cited by 99 publications

References 10 publications

Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles

Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles

Psychiatric disorders in rapid-onset dystonia-parkinsonism

Relationship between movement disorders and obsessive–compulsive disorder: beyond the obsessive–compulsive–tic phenotype. A systematic review

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