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Aurora magazine

The blog about the prenatal genetic of latest generation

Bipolar disorder: causes and symptoms

Bipolar disorder, manic-depressive disorder, bipolar disorder, bipolar depression. They are all the names of a mood disorder that affects about 3% of people. Because of the multiform clinical picture it is difficult to diagnose. It is often associated with other psychiatric disorders, psychotic symptoms, substance abuse and personality disorders.

Most cases of bipolar disorder are not diagnosed. The subject perceives the hypomaniacal and manic phases as normal manifestations of the personality. However, if not diagnosed, it can have serious consequences for private and work life.

Under normal conditions, the brain deals with the regulation of mood. Despite the ups and downs caused by external and hormonal factors, these mechanisms maintain a certain balance of the whole. A balance that is lacking in those suffering from bipolar disorder, causing emotional lability, lunacy, depression followed by manic excitement. This also affects the levels of physical energy, mental efficiency, sleep and appetite.

People suffering from bipolar disorder go from manic to depressive phases even within a few days. In the hypomaniac and manic phase the subject sleeps less, feels more energetic and euphoric. Self-esteem grows and often leads to rash decisions and inappropriate behavior. At this stage too much excitement pushes to open projects without being able to close them. Sometimes the phenomenon degenerates into delirium of omnipotence and also leads to auditory hallucinations.

The depressive phase is characterized by deep and continuous sadness, which lasts for at least 14 days. The subject has the feeling of not loving anything and that life does not make sense. Often those suffering from bipolar disorder are struggling to sleep at this stage. Also for this reason, it feels without energy and always tired. The depressive phase is often longer than the manic phase and can even come after a period of stable mood.

Bipolar disorder of type I is characterized by the presence of at least one manic episode in life. In this case, the presence or absence of other hypomanic or depressive episodes is ignored. Nevertheless, the episodes of mania are very present.

In type II bipolar disorder, there is at least one episode of major depression throughout life. This is accompanied by at least one hypomanic episode.

Source: studicognitivi.it

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Epilepsy and depression have the same genetic cause

In some people, epilepsy and depression share the same genetic cause. The researchers at Rutgers University-New Brunswick and Columbia University say so. The discovery could help improve treatments, raising patients' quality of life.

Scientists have studied dozens of families with people with epilepsy. In particular, they analyzed the rate of mood disorders and compared it with the average in the United States. They found that people with focal epilepsy are more prone to these diseases. Among those who suffer from generalized epilepsy, however, the rate of depression remains the same.

The lead author of the study, Gary A. Heiman, denounces the tendency to underestimate mood disorders among epileptics. Research, on the other hand, proves the need for more accurate controls, especially among those suffering from focal epilepsy. These people should receive ad hoc treatments for both epilepsy and depression.

It is likely that there is a genetic link between focal epilepsy and depression. The results of this study support the thesis, but they are not the only ones. It is from the days of Hippocrates that doctors take note of a greater propensity to "melancholy" among those suffering from epilepsy. Nevertheless, it is still unclear what genes are involved in both diseases.

Source: rutgers.edu

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The subtypes of bipolar disorder have different genetic causes

The two most common subtypes of bipolar disorder - bipolar I and bipolar II - have different genetic causes. This is what emerges from a study by Dr. Jie Song, from the Karolinska Institutet. Despite the genetic overlap between the two subtypes, each of these tends to be grouped into families. This suggests a distinction between bipolar I and II.

The new study emphasizes the different genetic origins of the two disorders. The opinion of Dr. Song therefore stands in opposition to the common opinion. According to most doctors, in fact, bipolar II disorder would be only a milder form of bipolar I disorder.

Dr. Song analyzed the occurrence of each subtype within Swedish families. He found that the occurrence of both subtypes in the same family is rare. The occurrence of only one subtype in a single family occurs much more often. This suggests that the genetic causes of the two forms of the disease are only partly equal.

The study provides evidence of a different genetic root of the two diseases. Only bipolar disorder II showed gender differences. In this there is a clear prevalence of female patients, a phenomenon that does not occur in bipolar disorder I. Furthermore, bipolar I disorder is much more present in the family with a history of schizophrenia, which is not true for type II.

The findings will help research on this and other psychiatric illnesses. The distinction between the two subtypes also has repercussions on treatment strategies for patients.

Source: elsevier.com

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Charcot-Marie-Tooth disease: causes and symptoms

Charcot-Marie-Tooth disease (CMT) is a disease of the peripheral nervous system. The most characteristic signs are weakness and atrophy of the muscles, as well as reduced sensitivity. Generally the first symptoms start from the feet, to spread upwards. Most cases occur before the age of 20 and there are different forms, which can be more or less disabling.

It is estimated that the disease affects 1 in 2,500 people. To date, over 40 genes related to the disease have been identified, but they are likely to be many more. Most forms can be transmitted in an autosomal dominant manner: an altered copy of the gene is enough to show the disease. In other forms, however, it is necessary to inherit genes altered by both parents. Still others are linked to the X chromosome, for which women are affected by a mild form and men by a more severe form.

The diagnosis of CMT is made by clinical observation, electromyographic examination and nerve biopsy. Genetic analysis, which allows early diagnosis, is also taking on an increasingly important role.

For the time being there are no definitive medical treatments for Charcot-Marie-Tooth disease. There are a number of ongoing clinical trials to evaluate the efficacy of ascorbic acid in the most common forms. Unfortunately, the results are not encouraging. On the other hand, other substances seem much more promising and they are analyzing the effects on animals. Also, in some cases surgery and physiotherapy help.

Source: telethon.it

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