| 1 | Presse Med 2006 Feb 35: 277-80 |
|---|---|
| PMID | 16493329 |
| Title | [Neurofibromatosis type 1: psychiatric disorders and quality of life impairment]. |
| Abstract | Neurofibromatosis type 1 (NF1) is often associated with psychiatric disorders, which are more frequent inNF1than in general population (33% of patients). Dysthymia is the most frequent diagnosis (21% of patients). There is also a high prevalence of depressive mood (7%), anxiety (1-6%), and personality (3%) disorders. The risk of suicide is four times greater than in the general population. Bipolar mood disorders orschizophreniaappear to be rare. The impaired quality of life associated withNF1may play an important role in the development of psychiatric disorders. Quality of life assessments may help to identify a population at high risk. |
| SCZ Keywords | schizophrenia |
| 2 | Arch Pediatr 2015 Sep 22: 956-60 |
| PMID | 26228808 |
| Title | [Anxiety disorders in type 1 neurofibromatosis: A case report]. |
| Abstract | Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births, an autosomal dominant mode of inheritance, and a high rate of new mutations.NF1临床表现显著变量,马nifestations ranging from mild lesions to several complications and functional impairment. The complications are age-specific. Psychiatric disorders are more frequent inNF1than in the general population, especially in children. They include dysthymia, depressive mood, anxiety, and personality disorders. Bipolar mood disorders orschizophreniaare rather rare. The majority of studies have focused on physical health and neurocognitive function inNF1, whereas psychiatric disorders associated with this disease remain unclear and poorly documented. This report is based on a clinical case and discusses the relationship between neurofibromatosis type 1 and psychiatric disorders, particularly anxiety disorders. This case concerns a 13-year-old girl, the first child of healthy and non-consanguineous parents. The patient's history showed normal psychomotor and psychoaffective development. Her father and paternal grandmother had isolated caf�-au-lait spots. In June 2013, a subcutaneous mass appeared in her right thigh. She consulted a neurologist and was explored. The physical examination revealed signs ofNF1. She had caf�-au-lait spots on the trunk and extremities, and a neurofibroma in the right thigh. Bilateral ophthalmic examination revealed multiple Lish nodules. After 1 month, a psychiatric consultation was requested for sad mood and night terrors. Obsessive compulsive disorder and generalized anxiety disorder were diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. The current psychiatric literature does not provide full explanations of anxiety symptoms associated withNF1. Some authors have tried to explain the link betweenNF1and psychiatric disorders, and several etiopathogenic hypotheses have been discussed. In our case, a concomitant diagnosis ofNF1and anxiety disorders was made at the age of 13. However, anxiety symptoms started to appear before age 4; they increased gradually and occupied the foreground. This would strengthen the hypothesis of genetic determinism inNF1patients. The question that arises is: is it a fortuitous association of psychiatric disorders andNF1or are they psychiatric manifestations induced by a multisystem disease? More detailed investigations are necessary to clarify the etiopathogenic and psychopathological mechanisms that would cause psychiatric comorbidity associated withNF1. |
| SCZ Keywords | schizophrenia |
| 3 | Schizophr. Res. 2016 Apr 172: 68-74 |
| PMID | 26899345 |
| Title | A network of synaptic genes associated with schizophrenia and bipolar disorder. |
| Abstract | Identification of novel candidate genes forschizophrenia(SZ) and bipolar disorder (BP), two psychiatric disorders with large epidemiological impacts, is a key research area in neurosciences and psychiatric genetics. Previous evidence from genome-wide studies suggests an important role for genes involved in synaptic plasticity in the risk for SZ and BP. We used a convergent genomics approach, combining different lines of biological evidence, to identify genes involved in the cAMP/PKA/CREB functional pathway that could be novel candidates for BP and SZ: CREB1, CREM, GRIN2C, NPY2R,NF1, PPP3CB PRKAR1A。这七个基因是一个alyzed in a HapMap based association study comprising 48 common SNPs in 486 SZ, 351 BP patients and 514 control individuals recruited from an isolated population in Northern Sweden. Genetic analysis showed significant allelic associations of SNPs in PRKAR1A with SZ and of PPP3CB and PRKAR1A with BP. Our results highlight the feasibility and the importance of convergent genomic data analysis for the identification of candidate genes and our data provide support for the role of common inherited variants in synaptic genes and their involvement in the etiology of BP and SZ. |
| SCZ Keywords | schizophrenia |