Psychiatric Symptoms Of Huntington’s Disease
Published on Apr 27 2010, in the categories: Huntington
Huntington's disease is a neurodegenerative disease characterized by movement disorders (chorea), personality changes, dementia, progressive disability, loss of motor functions. This is a serious disease that usually leads to death 15-20 years after onset.
The onset usually occurs between 30 and 50 years. The first psychiatric symptoms of Huntington’s disease are usually difficulty in concentrating and performing simple tasks before met with; arise after sudden movements, clicks, strange faces, with their progress; the patient presents the characteristic appearance coerico (dance).
Psychiatric symptoms of Huntington’s disease have been following and manic depression, aggression and psychosis in some cases. With the progression of the disease also the word becomes difficult, and finally it is almost impossible even to swallow.
The diagnosis is generally enables observing the neurological signs. Instrumental investigations (CT, PET) and complete the genetic analysis. The differential diagnosis is useful to exclude that the observed phenomena are due to other causes must be ruled out schizophrenia, depression, Parkinson's disease.
Huntington's disease is a genetic disorder caused by mutations in the gene IT-15 (located on chromosome 4), which is transmitted as an autosomal dominant. Expressivity is variable and late onset. The penetration is complete by the fifth decade of life.
Huntington is a classic genetic disease inherited by "expansion of microsatellites. These are diseases where the gene has an internal repeat sequence of the same basic units of nucleotides (the basic building blocks which, joined together, form the DNA). The basic unit is usually a triplet (microsatellites), such as GTA (guanine, thymine, cytosine) that is repeated a number of times, e.g. 20-30 times.
In genetic diseases by expansion of microsatellites observed numerical expansion of this basic unit of a few tens up to hundreds or thousands of times, this phenomenon causes the malfunction of its gene and ultimately the onset of genetic disease. In the case of Huntington's hat-trick that undergoes expansion in the gene IT-15, CAG. The gene normal (healthy) has a number of repetitions between 10 and 30. In individuals carrying the so-called permutation, a condition that is where the disease is not known but may be sent, and the repetitions from 30 to 35.
Sick individuals have a number of triplets 36 to 100 or even higher than 100. Even in Huntington, as well as many other diseases by expansion of microsatellites, we observe the phenomenon of anticipation, i.e. increasing the number of triplets over the generations resulting in anticipation of the age of onset, in which case the 'anticipation is especially true if the transmission is made by his father.
The peculiarity of this disease (autosomal dominant, onset after the age of reproduction, anticipation, gravity) requires that counseling and genetic testing of HD patients should be planned with extreme caution and only by highly qualified people, since it cannot kin implication but with certainty that they will develop with the disease in later years or may determine reproductive choices of healthy people. They thus pose many problems of bioethics as well as related regulations that govern privacy.
The onset usually occurs between 30 and 50 years. The first psychiatric symptoms of Huntington’s disease are usually difficulty in concentrating and performing simple tasks before met with; arise after sudden movements, clicks, strange faces, with their progress; the patient presents the characteristic appearance coerico (dance).
Psychiatric symptoms of Huntington’s disease have been following and manic depression, aggression and psychosis in some cases. With the progression of the disease also the word becomes difficult, and finally it is almost impossible even to swallow.
The diagnosis is generally enables observing the neurological signs. Instrumental investigations (CT, PET) and complete the genetic analysis. The differential diagnosis is useful to exclude that the observed phenomena are due to other causes must be ruled out schizophrenia, depression, Parkinson's disease.
Huntington's disease is a genetic disorder caused by mutations in the gene IT-15 (located on chromosome 4), which is transmitted as an autosomal dominant. Expressivity is variable and late onset. The penetration is complete by the fifth decade of life.
Huntington is a classic genetic disease inherited by "expansion of microsatellites. These are diseases where the gene has an internal repeat sequence of the same basic units of nucleotides (the basic building blocks which, joined together, form the DNA). The basic unit is usually a triplet (microsatellites), such as GTA (guanine, thymine, cytosine) that is repeated a number of times, e.g. 20-30 times.
In genetic diseases by expansion of microsatellites observed numerical expansion of this basic unit of a few tens up to hundreds or thousands of times, this phenomenon causes the malfunction of its gene and ultimately the onset of genetic disease. In the case of Huntington's hat-trick that undergoes expansion in the gene IT-15, CAG. The gene normal (healthy) has a number of repetitions between 10 and 30. In individuals carrying the so-called permutation, a condition that is where the disease is not known but may be sent, and the repetitions from 30 to 35.
Sick individuals have a number of triplets 36 to 100 or even higher than 100. Even in Huntington, as well as many other diseases by expansion of microsatellites, we observe the phenomenon of anticipation, i.e. increasing the number of triplets over the generations resulting in anticipation of the age of onset, in which case the 'anticipation is especially true if the transmission is made by his father.
The peculiarity of this disease (autosomal dominant, onset after the age of reproduction, anticipation, gravity) requires that counseling and genetic testing of HD patients should be planned with extreme caution and only by highly qualified people, since it cannot kin implication but with certainty that they will develop with the disease in later years or may determine reproductive choices of healthy people. They thus pose many problems of bioethics as well as related regulations that govern privacy.
Signs Symptoms Of Huntington Disease
Published on Mar 22 2010, in the categories: Huntington
It should first be said that there is a common path to all patients for the occurrence of various signs and symptoms of Huntington’s disease, which vary from person to person even within the same family. You also can not determine with certainty what signs and symptoms of Huntington’s disease accompany the first onset of this disease. In most cases the mental symptoms make their appearance before the physical-motor (e.g., a depression that lasted for months may signal the onset of illness), but it is equally true that in some cases opposite trend.
This is because very often the symptoms of Huntington are ambiguous, subtle, difficult to recognize as such. May show signs of emotional instability, such as irritability or increased and a tendency to depression, apathy, difficulty concentrating, excessive fatigue. Subtle changes in behavior, small involuntary movements and difficulty with coordination first, especially if most evident under conditions of physical and psychological stress, can be telltale sign of the development of the disease.
All the symptoms are exacerbated by stress or excitement, and instead become blurred at rest and during sleep. While in the past, the Huntington disease has often been mistaken for an entirely different disease (such as schizophrenia, epilepsy, Parkinson's or Alzheimer's disease) is also true that the person "at risk" and its family, especially if there are precedents in the family, tend to see symptoms detectors where none exist. To give feedback to the diagnosis of Huntington may be in addition to the genetic test, performed in various centers, magnetic resonance imaging (already evident in earlier stages of disease) and the TAC, which highlight the presence of atrophy (cell death) in the caudate nucleus (the brain area affected by the disease).
Other symptoms:
The manifestation of psychic symptoms in a patient suffering from Huntington can be divided into emotional disturbance / behavioral disorders and cognitive / intellectual.
Emotional disturbance / behavioral: the onset of the disease generally tends to exacerbate certain sides of the character of the person. Thus, we have excessive irritability, outbursts of aggression and even violence on the one hand, depression, apathy, tendency to isolate the other.
Sufferers become insecure, anxious, always being aware of their condition. In extreme cases may lead to fledged psychosis or mania.
Cognitive / intellectual symptoms: the patients lose the ability to concentrate, to pay their attention to what they are doing, and this makes it dangerous for themselves and for other activities such as driving a car. Find it difficult to organize, even in small routine tasks, and are very hesitant in dealing with each new situation. Often fall into a confused state, unable to remember things done shortly before (but always keep the memory of events that occurred before, during their life) and are unable to perform actions which are particularly complex, although it had done in the past.
This is because very often the symptoms of Huntington are ambiguous, subtle, difficult to recognize as such. May show signs of emotional instability, such as irritability or increased and a tendency to depression, apathy, difficulty concentrating, excessive fatigue. Subtle changes in behavior, small involuntary movements and difficulty with coordination first, especially if most evident under conditions of physical and psychological stress, can be telltale sign of the development of the disease.
All the symptoms are exacerbated by stress or excitement, and instead become blurred at rest and during sleep. While in the past, the Huntington disease has often been mistaken for an entirely different disease (such as schizophrenia, epilepsy, Parkinson's or Alzheimer's disease) is also true that the person "at risk" and its family, especially if there are precedents in the family, tend to see symptoms detectors where none exist. To give feedback to the diagnosis of Huntington may be in addition to the genetic test, performed in various centers, magnetic resonance imaging (already evident in earlier stages of disease) and the TAC, which highlight the presence of atrophy (cell death) in the caudate nucleus (the brain area affected by the disease).
Other symptoms:
The manifestation of psychic symptoms in a patient suffering from Huntington can be divided into emotional disturbance / behavioral disorders and cognitive / intellectual.
Emotional disturbance / behavioral: the onset of the disease generally tends to exacerbate certain sides of the character of the person. Thus, we have excessive irritability, outbursts of aggression and even violence on the one hand, depression, apathy, tendency to isolate the other.
Sufferers become insecure, anxious, always being aware of their condition. In extreme cases may lead to fledged psychosis or mania.
Cognitive / intellectual symptoms: the patients lose the ability to concentrate, to pay their attention to what they are doing, and this makes it dangerous for themselves and for other activities such as driving a car. Find it difficult to organize, even in small routine tasks, and are very hesitant in dealing with each new situation. Often fall into a confused state, unable to remember things done shortly before (but always keep the memory of events that occurred before, during their life) and are unable to perform actions which are particularly complex, although it had done in the past.
Huntington’s Disease Symptoms
Published on Mar 17 2010, in the categories: Huntington
Huntington's disease (MH) is an inherited disorder of degeneration characterized by a movement disorder progressively debilitating behavioral problems, sometimes very serious and affects the intellectual functions leading to dementia. Has a prevalence varying in different parts of the world with values in Europe about 5-10/100.000. In Italy, therefore is estimate that about 6,000 people and 18,000 sick those at risk of inheriting the disease. It was George Huntington in 1872, to describe for the first time the Huntington’s disease symptoms in his article "On Chorea."
Clinical features and genetic
The gene responsible for MH is located on chromosome 4. It contains information for the production of a protein called Huntington whose function is still unknown, although there is evidence that it is a protein essential to life and expressed in all cells. People with MH have alterations in the gene, and therefore their cells produce an abnormal form of this protein, which through an automatic gain functions toxic (gain-of-function) is not yet clarified, induces death of neurons in many brain areas.
In many cases, issues related to behavioral changes occur before Huntington’s disease symptoms occur of motor. The first signs of disease may be irritability, depression, mood changes along with a slight disturbance of motor coordination with mild and sporadic hyperkinesia-like shots. Slow movements (bradykinesia) or muscle contractures (dystonia) may characterize the onset of the disease by contributing to different variations depending on the case.
The age of onset is highly variable because the disease can manifest as a 2 to 90 years although it is generally the first symptoms appear on average between 30 and 50. The MH has a worsening trend that chorea and cognitive problems worsen as the disease progressed. Another common symptom is dysarthria, which is manifested as an alteration of the ability 'to articulate the language, often associated with difficulty swallowing.
Huntington in young people
In approximately 10% of cases, the MH strikes before the age of 20. Fortunately only rarely children or adolescents have this disease. Children most often inherit the disease from their father (MH is inherited with the same frequency from both parents). The symptoms of juvenile form of MH are sometimes different from the adult form, as in the case of the form defined Westphal. Initial symptoms usually involve slow, stiff, awkward gait, difficulty in speech and, sometimes, seizures occurring in 30-50% of cases. The course of the variant of youth may be more severe than that of adults. This group can 'be further divided into those with an outbreak of infantile or before 10 years and those with onset in adolescence 10 to 20 years of age'.
The MH is an autosomal-dominant and is transmitted from one generation to the next through the transmission from parent to child of a gene mutated (altered). Each child of an affected parent has one chance in two (50%) of having inherited the gene that causes MH, and is called "at risk". People who carry the gene develop MH unless they die from other causes before they have the first symptoms. Males and females have the same chance of inheriting the gene from affected parent. Those who have not inherited the gene do not develop the disease, and even their children.
Clinical features and genetic
The gene responsible for MH is located on chromosome 4. It contains information for the production of a protein called Huntington whose function is still unknown, although there is evidence that it is a protein essential to life and expressed in all cells. People with MH have alterations in the gene, and therefore their cells produce an abnormal form of this protein, which through an automatic gain functions toxic (gain-of-function) is not yet clarified, induces death of neurons in many brain areas.
In many cases, issues related to behavioral changes occur before Huntington’s disease symptoms occur of motor. The first signs of disease may be irritability, depression, mood changes along with a slight disturbance of motor coordination with mild and sporadic hyperkinesia-like shots. Slow movements (bradykinesia) or muscle contractures (dystonia) may characterize the onset of the disease by contributing to different variations depending on the case.
The age of onset is highly variable because the disease can manifest as a 2 to 90 years although it is generally the first symptoms appear on average between 30 and 50. The MH has a worsening trend that chorea and cognitive problems worsen as the disease progressed. Another common symptom is dysarthria, which is manifested as an alteration of the ability 'to articulate the language, often associated with difficulty swallowing.
Huntington in young people
In approximately 10% of cases, the MH strikes before the age of 20. Fortunately only rarely children or adolescents have this disease. Children most often inherit the disease from their father (MH is inherited with the same frequency from both parents). The symptoms of juvenile form of MH are sometimes different from the adult form, as in the case of the form defined Westphal. Initial symptoms usually involve slow, stiff, awkward gait, difficulty in speech and, sometimes, seizures occurring in 30-50% of cases. The course of the variant of youth may be more severe than that of adults. This group can 'be further divided into those with an outbreak of infantile or before 10 years and those with onset in adolescence 10 to 20 years of age'.
The MH is an autosomal-dominant and is transmitted from one generation to the next through the transmission from parent to child of a gene mutated (altered). Each child of an affected parent has one chance in two (50%) of having inherited the gene that causes MH, and is called "at risk". People who carry the gene develop MH unless they die from other causes before they have the first symptoms. Males and females have the same chance of inheriting the gene from affected parent. Those who have not inherited the gene do not develop the disease, and even their children.
Symptoms Of Huntington’s Disease
Published on Feb 22 2010, in the categories: Huntington, symptoms
Huntington's disease, a neurodegenerative disease, affects 30.000 Americans and is incurable and fatal. But a new discovery about how cells repair DNA indicates a possible way to stop or slow the onset of the disease process. The study was founded by the National Institute for Health (NIH). "What happens often, research touch with a biological process - in this case the enzymes involved in DNA repair - leads to new discoveries about this illness and ways to prevent and deal with them." said Dr. Elias A. Zerhouni, NIH director.
The study was published on April 22, as an advanced online publication in the Nature journal and was led by Dr. Cynthia T. McMurray, professor of pharmacology at the Mayo Clinic in Rochester, Minnesota.Unlike other genetic diseases, symptoms of Huntington's disease usually appear not only to middle aged people, which put scientists on thoughts on the cause of the onset of symptoms and determine whether or not they can be countered, or at least slowed down.
Patients with this disease have a version of a gene called Huntington that carries an extra segment with a certain sequence of repetitive units. If the segment is too large, erroneous gene produces a protein with brain damaging effect. "Huntington's disease is a progressive disease, but no one knows exactly why." McMurray says. "Our work supports the idea of disease progresses when the extra segment increased during non-dividing cells such as neurons."
McMurray's study shows that the inserted segment increased when the cell tries to remove oxidative lesions are caused by byproducts of oxygen breathing. DNA repair enzymes initially manage to repair oxidative damage, but over time, increased the number of lesions make the capacity of the system outdated. Oxidative lesions also accumulate in people who have Huntington's disease, but the absence of extra segments on the Huntington gene does not lead to manifestations. Although scientists have hypothesized that oxidative lesions play an important role in Huntington's disease for a long time, the appropriate place of injury is still unknown.
"No one has yet linked these indicators with each other." McMurray says. To show that further segments grow in time, the researchers inserted the human genome in mice, which contained a Huntington gene with an inserted segment and big enough for the disease to be manifest in humans. Over several months - when mice were much older - researchers analyzed gene and found that the segment is high.
Because Huntington's disease affects the mind, body, and emotions, symptoms often mimic other conditions. The general symptoms of Huntington’s disease in early stages can include poor memory; difficulty making decisions; mood changes such as increased depression, anger or irritability; a growing lack of coordination, twitching or other uncontrolled movements; difficulty walking, speaking, and/or swallowing. The order in which symptoms develop will vary from person to person. This disease generally develops in adult people.
The study was published on April 22, as an advanced online publication in the Nature journal and was led by Dr. Cynthia T. McMurray, professor of pharmacology at the Mayo Clinic in Rochester, Minnesota.Unlike other genetic diseases, symptoms of Huntington's disease usually appear not only to middle aged people, which put scientists on thoughts on the cause of the onset of symptoms and determine whether or not they can be countered, or at least slowed down.
Patients with this disease have a version of a gene called Huntington that carries an extra segment with a certain sequence of repetitive units. If the segment is too large, erroneous gene produces a protein with brain damaging effect. "Huntington's disease is a progressive disease, but no one knows exactly why." McMurray says. "Our work supports the idea of disease progresses when the extra segment increased during non-dividing cells such as neurons."
McMurray's study shows that the inserted segment increased when the cell tries to remove oxidative lesions are caused by byproducts of oxygen breathing. DNA repair enzymes initially manage to repair oxidative damage, but over time, increased the number of lesions make the capacity of the system outdated. Oxidative lesions also accumulate in people who have Huntington's disease, but the absence of extra segments on the Huntington gene does not lead to manifestations. Although scientists have hypothesized that oxidative lesions play an important role in Huntington's disease for a long time, the appropriate place of injury is still unknown.
"No one has yet linked these indicators with each other." McMurray says. To show that further segments grow in time, the researchers inserted the human genome in mice, which contained a Huntington gene with an inserted segment and big enough for the disease to be manifest in humans. Over several months - when mice were much older - researchers analyzed gene and found that the segment is high.
Because Huntington's disease affects the mind, body, and emotions, symptoms often mimic other conditions. The general symptoms of Huntington’s disease in early stages can include poor memory; difficulty making decisions; mood changes such as increased depression, anger or irritability; a growing lack of coordination, twitching or other uncontrolled movements; difficulty walking, speaking, and/or swallowing. The order in which symptoms develop will vary from person to person. This disease generally develops in adult people.
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