Abstract
Background: Neurological and psychiatric disorders show clinical overlap suggesting a shared pathophysiological background. We evaluated myoclonus-dystonia, a monogenic movement disorder as a disease model for inherited psychopathology.
Method: We investigated 12 SGCE mutation carriers using standardized neurological and psychiatric examinations to assign DSM-IV diagnoses. Furthermore, we analyzed all studies in the Medline database which included psychiatric information on SGCE mutation-positive patients.
Results: Of our twelve SGCE mutation carriers, 10 were older than 16 years. Two of them (20%) reported psychiatric diagnoses before our examination, which resulted in at least one psychiatric diagnosis in seven (70%) patients, most frequently anxiety (60%), depression (30%) or both. Substance abuse was observed in 20%, whereas obsessive-compulsive disorders were absent. One mutation carrier showed Axis 2 features. In the literature analysis, the ten studies using standardized tools covering DSM-IV criteria reported prevalences similar to those in our sample. This was three times the frequency of psychiatric disorders detected in 13 studies using clinical history or patient report only.
Conclusion: About two thirds of SGCE mutation carriers develop psychiatric comorbidity and >80% are previously undiagnosed.
| Original language | English |
|---|---|
| Journal | Parkinsonism and Related Disorders |
| Volume | 19 |
| Issue number | 4 |
| Pages (from-to) | 422-425 |
| Number of pages | 4 |
| ISSN | 1353-8020 |
| DOIs | |
| Publication status | Published - 01.04.2013 |
Funding
We wish to thank PD Dr. Hans-Jürgen Rumpf from the Department of Psychiatry and Psychotherapy for his help to implement the CIDI interview. This work was supported by the Dystonia Medical Research Foundation (DMRF) and the Hermann and Lilly Schilling Foundation . Appendix A
