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Saturday, April 29, 2017

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Thursday, April 27, 2017

Case report Klinefelter syndrome and multiple sclerosis as the cause of psychosis

April 2017

Introduction and goals

Forty-three-year-old male diagnosed with Klinefelter syndrome and showing radiological findings suggesting a demyelinating pathology who presents several psychiatric manifestations including megalomaniacal ideation, delusion, lack of impulse control and behavioral alterations.

Clinical case

Forty-three-year-old male diagnosed with Klinefelter syndrome at the age of 31, presenting several psychiatric pathologies since adolescence: delusions, megalomania, mood fluctuation, and high impulsiveness. The patient had a poor therapeutic response to anti-psychotic drugs and ECT. He was hospitalized up to 9 times, but the full control of the symptomatology was not achieved. During his last hospitalization, a MRI revealed lesions compatible with a demyelinating pathology.


A higher prevalence of schizophrenia spectrum disorders has been described among patients suffering from Klinefelter syndrome, which might explain the role of the X chromosome in the susceptibility to psychiatric disorders, particularly to psychosis. Furthermore, the brain structure alterations presented by patients suffering from Klinefelter syndrome are similar to those described among schizophrenic patients: small brain volume, lateral cerebral ventricular enlargement and reduced temporal gyrus, amygdala, insula and cingulate cortex. Patients suffering from multiple sclerosis are more prone to psychiatric disorders, such as mood swing, aggressiveness or psychosis, which are not concurrent with the physical progression of the disease, sometimes being its first manifestation. Even when being patchy and multifocal, demyelination seems to be concentrated in the frontal lobes, related to the cognitive and affective functions and the personality.


Both multiple sclerosis and Klinefelter's syndrome may alter the brain structure, mainly in the frontal lobe, and predispose to psychiatric disorders.


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Monday, April 24, 2017

British scientists have discovered a potential cause for Multiple Sclerosis

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Scientists found a protein called Rab32 in the brains of people with MS
British scientists have discovered a potential cause for multiple sclerosis, in a major breakthrough that could pave the way for new treatments for the disease.

Scientists have found a new cellular mechanism which may cause the autoimmune disorder. Multiple sclerosis affects around 2.5 million people around the world.

Typically, people are diagnosed in their 20s and 30s, and it is more common in women than men.

Although the cause has so far been a mystery, the disease causes the body's own immune system to attack myelin - the fatty "sheaths" which protect nerves in the brain and spinal cord.

This leads to brain damage, a reduction in blood supply and oxygen and the formation of lesions in the body.

Symptoms can be wide-ranging, and can include muscle spasms, mobility problems, pain, fatigue, and problems with speech.

Scientists have long suspected that mitochondria, the energy-creating "powerhouse" of the cell, plays a link in causing multiple sclerosis.

Using human brain tissue samples, researchers at the Universities of Exeter and Alberta found a protein called Rab32 is present in large quantities in the brains of people with MS - but is virtually absent in healthy brain cells.

Where Rab32 is present, the team discovered that a part of the cell which stores calcium gets too close to the mitochondria.

The resulting miscommunication with the calcium supply triggers the mitochondria to misbehave, ultimately causing toxicity for brain cells in people with MS.

Researchers do not yet know what causes an unwelcome influx of Rab32 but they believe the defect could originate at the base of the cell.

The finding will enable scientists to search for effective treatmentsthat target Rab32 and embark on determining whether there are other proteins which could play a role in triggering MS.

Professor Paul Eggleton, of the University of Exeter Medical School, said: "Multiple sclerosis can have a devastating impact on people's lives, affecting mobility, speech, mental ability and more.

"So far, all medicine can offer is treatment and therapy for the symptoms - as we do not yet know the precise causes, research has been limited.

"Our exciting new findings have uncovered a new avenue for researchers to explore. It is a critical step, and in time, we hope it might lead to effective new treatments for MS."

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