Huntington’s Disease
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Huntington's disease is a progressive neurodegenerative disorder caused by a mutation on chromosome 4 that results in an elongated huntingtin protein. It is inherited in an autosomal dominant pattern and usually strikes in middle age, causing movement, cognitive, and behavioral issues. There is no cure, but symptoms can be managed through medications. Future treatments focus on gene therapy to silence the mutated gene or neural transplantation, though mutant huntingtin may spread to transplanted tissue.
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Huntington's disease & its Treatment
Huntington's disease is slowly progressive, rapidly growing hereditary brain disease that causes abnormal motor coordination, thinking, behavior and ultimately leads to dementia.
Its necessary to diagnosis earlier i.e. onset of movement disorder, particularly
with chorea and impaired voluntary movement.
Autosomal dominant inheritance with 2000 people are diagnosed each year.
No drug therapy is available
The worldwide prevalence of Huntington’s Disease is 5-10 cases per 10000 which affects men and women equally
Huntingtons disease
The document provides information about Huntington's disease (HD), including:
1) HD is a hereditary neurodegenerative disorder caused by a CAG repeat expansion in the HD gene, and is characterized by motor, cognitive, and psychiatric symptoms.
2) The disease primarily involves degeneration of the basal ganglia, especially the caudate and putamen nuclei.
3) Symptoms typically begin in mid-life and include chorea, dystonia, cognitive impairment, and psychiatric issues. There is currently no cure for HD.
What is HUNTINGTON'S DISEASE?
Huntington's disease is an inherited disorder that results in the degeneration of brain cells. It causes movement, cognitive, and psychiatric disorders. Symptoms usually appear between ages 30-40 and include involuntary movements, impaired voluntary movement, cognitive decline, and psychiatric issues like depression. Huntington's disease is caused by a mutated HTT gene that results in an elongated huntingtin protein. This protein forms toxic fragments in neurons that lead to their dysfunction and death. The disorder is inherited in an autosomal dominant pattern, so only one copy of the mutated gene is needed. Larger CAG repeat lengths in the gene cause earlier onset and more severe symptoms.
Huntington’S Disease
Huntington's disease is a genetic disorder caused by a defective gene on chromosome 4 that results in abnormal repetitions of a CAG sequence in DNA. It is inherited from a parent and causes progressive breakdown of nerve cells in the brain. Symptoms include involuntary movements, cognitive decline, and psychiatric problems. There is no cure, but medications can help manage symptoms.
Huntington Disease
Huntington's disease is an autosomal dominant, progressive neurodegenerative disease that affects 5-10 per 100,000 people in the Caucasian population. It is caused by a CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4p16.3, which leads to striatal and cortical atrophy. Symptoms include increasingly severe motor disturbances, cognitive impairment, and psychiatric symptoms. Current pharmacological treatments aim to reduce chorea and include tetrabenazine, dopamine antagonists, anti-glutamatergics, and benzodiazepines.
Huntington’s disease
Huntington's disease is a genetic neurodegenerative disorder that typically causes movement, cognitive, and psychiatric problems. It is caused by an expanded CAG repeat in the Huntington gene, which leads to damage and death of nerve cells in the brain over time. The signs and symptoms of Huntington's disease usually appear between ages 30 and 50 and worsen over 10 to 25 years, progressing through distinct stages of mild, moderate, and severe problems with movement, thinking, and behavior. While there is no cure for Huntington's disease currently, medications and therapies can help manage some of the symptoms.
Huntington disease
Huntington's disease is an inherited, progressive disorder that causes chorea and dementia. It results from an expanded CAG repeat in the huntingtin gene on chromosome 4. Symptoms typically begin in adulthood and include chorea as well as cognitive and psychiatric problems. Chorea results from overactivity in dopaminergic pathways in the basal ganglia. Treatment involves dopamine-depleting drugs like reserpine or tetrabenazine or dopamine receptor blockers like haloperidol to reduce chorea.
Huntington's disease
John, age 45, presented with declining memory and concentration along with involuntary movements in his fingers, toes and face. After extensive evaluation, he was diagnosed with Huntington's disease, which was confirmed by a DNA analysis showing 43 CAG repeats. Huntington's disease is an inherited, degenerative disorder that affects movement, cognition and psychiatric functions. It is caused by a dominant genetic mutation and results in the death of brain cells in the basal ganglia. There is currently no cure for Huntington's disease.
Recommended
Huntington's disease & its Treatment
Huntington's disease is slowly progressive, rapidly growing hereditary brain disease that causes abnormal motor coordination, thinking, behavior and ultimately leads to dementia.
Its necessary to diagnosis earlier i.e. onset of movement disorder, particularly
with chorea and impaired voluntary movement.
Autosomal dominant inheritance with 2000 people are diagnosed each year.
No drug therapy is available
The worldwide prevalence of Huntington’s Disease is 5-10 cases per 10000 which affects men and women equally
Huntingtons disease
The document provides information about Huntington's disease (HD), including:
1) HD is a hereditary neurodegenerative disorder caused by a CAG repeat expansion in the HD gene, and is characterized by motor, cognitive, and psychiatric symptoms.
2) The disease primarily involves degeneration of the basal ganglia, especially the caudate and putamen nuclei.
3) Symptoms typically begin in mid-life and include chorea, dystonia, cognitive impairment, and psychiatric issues. There is currently no cure for HD.
What is HUNTINGTON'S DISEASE?
Huntington's disease is an inherited disorder that results in the degeneration of brain cells. It causes movement, cognitive, and psychiatric disorders. Symptoms usually appear between ages 30-40 and include involuntary movements, impaired voluntary movement, cognitive decline, and psychiatric issues like depression. Huntington's disease is caused by a mutated HTT gene that results in an elongated huntingtin protein. This protein forms toxic fragments in neurons that lead to their dysfunction and death. The disorder is inherited in an autosomal dominant pattern, so only one copy of the mutated gene is needed. Larger CAG repeat lengths in the gene cause earlier onset and more severe symptoms.
Huntington’S Disease
Huntington's disease is a genetic disorder caused by a defective gene on chromosome 4 that results in abnormal repetitions of a CAG sequence in DNA. It is inherited from a parent and causes progressive breakdown of nerve cells in the brain. Symptoms include involuntary movements, cognitive decline, and psychiatric problems. There is no cure, but medications can help manage symptoms.
Huntington Disease
Huntington's disease is an autosomal dominant, progressive neurodegenerative disease that affects 5-10 per 100,000 people in the Caucasian population. It is caused by a CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4p16.3, which leads to striatal and cortical atrophy. Symptoms include increasingly severe motor disturbances, cognitive impairment, and psychiatric symptoms. Current pharmacological treatments aim to reduce chorea and include tetrabenazine, dopamine antagonists, anti-glutamatergics, and benzodiazepines.
Huntington’s disease
Huntington's disease is a genetic neurodegenerative disorder that typically causes movement, cognitive, and psychiatric problems. It is caused by an expanded CAG repeat in the Huntington gene, which leads to damage and death of nerve cells in the brain over time. The signs and symptoms of Huntington's disease usually appear between ages 30 and 50 and worsen over 10 to 25 years, progressing through distinct stages of mild, moderate, and severe problems with movement, thinking, and behavior. While there is no cure for Huntington's disease currently, medications and therapies can help manage some of the symptoms.
Huntington disease
Huntington's disease is an inherited, progressive disorder that causes chorea and dementia. It results from an expanded CAG repeat in the huntingtin gene on chromosome 4. Symptoms typically begin in adulthood and include chorea as well as cognitive and psychiatric problems. Chorea results from overactivity in dopaminergic pathways in the basal ganglia. Treatment involves dopamine-depleting drugs like reserpine or tetrabenazine or dopamine receptor blockers like haloperidol to reduce chorea.
Huntington's disease
John, age 45, presented with declining memory and concentration along with involuntary movements in his fingers, toes and face. After extensive evaluation, he was diagnosed with Huntington's disease, which was confirmed by a DNA analysis showing 43 CAG repeats. Huntington's disease is an inherited, degenerative disorder that affects movement, cognition and psychiatric functions. It is caused by a dominant genetic mutation and results in the death of brain cells in the basal ganglia. There is currently no cure for Huntington's disease.
Huntington's Disease
Huntington's disease is a genetic neurological disorder that causes the progressive breakdown of nerve cells in the brain. It typically manifests in a person's 30s or 40s with motor, cognitive, and psychiatric symptoms. The motor symptoms include involuntary writhing movements and problems with voluntary movement. Cognitive symptoms involve difficulties with tasks, flexibility, impulsivity, and processing speed. Common psychiatric issues are depression, OCD, mania, and bipolar disorder. The disease is caused by a loss of GABA and acetylcholine-producing neurons in the brain due to a defective gene. While there is no cure, treatments aim to support patients through diet, exercise, and psychosocial support.
Huntingtons disease
Huntington's disease is a genetic disorder that causes brain cells to waste away over time. It is passed down through families and results from a defective gene on chromosome 4 that causes an excess of the protein CAG. The disease has two types - adult onset which occurs in one's 30s-40s and is more common, and childhood onset which happens at a young age in rare cases. Signs and symptoms include involuntary movements, cognitive and psychiatric problems, and eventually death around 15-20 years after diagnosis usually from infection or sometimes suicide.
Huntington's Disease
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It is caused by a mutated gene on chromosome 4 that results in an abnormal protein damaging brain cells. Symptoms start with mood or movement changes and progress to uncontrolled movements and loss of mental abilities. Currently there is no cure, but medications can help treat symptoms.
Huntington disease
Huntington disease is a rare genetic disorder that is characterized by uncontrolled movements, emotional problems, and loss of thinking ability
Alzheimer’s disease ppt
Alzheimer's disease is a progressive neurodegenerative disease that causes loss of neurons and synapses in the brain. The main pathological hallmarks are extracellular amyloid beta plaques and intraneuronal neurofibrillary tangles. Current treatments only temporarily improve cognitive symptoms but do not stop progression of the disease. New treatments are needed to both maintain cognitive abilities and halt the underlying disease process.
Huntington
Huntington's disease is a neurodegenerative genetic disorder that causes the progressive breakdown of nerve cells in the brain, especially in the basal ganglia. It affects movement, cognition, and psychiatric functions and is caused by a defective gene inherited from a parent. Symptoms typically appear between ages 30-50 and include involuntary movements, cognitive decline, and psychiatric issues like depression. While there is no cure, treatment aims to reduce symptoms and complications through medications, speech/occupational/physical therapy, and supportive care.
Huntingtons chorea- Genetics
Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It is caused by a mutated gene that results in elongated repeats of the amino acid glutamine, which leads to the death of neurons in the basal ganglia. The primary symptoms include movement abnormalities such as chorea, cognitive decline, and psychiatric issues like depression. While there is currently no cure, treatment aims to manage symptoms and provide overall support through diet, exercise, and psychosocial interventions to help patients live as positively as possible.
HUNGTINGTON'S CHOREA
Huntington's disease is a progressive neurodegenerative disorder caused by a defective gene that results in the production of an abnormal protein called huntingtin. It affects movement, cognition, and personality. Symptoms include uncontrolled movements, impaired walking and talking, and mood and cognitive changes. There is currently no cure, but treatments can help manage symptoms. The disease is inherited in an autosomal dominant pattern and typically appears in middle adulthood.
Huntington disease final
Huntington disease is a rare, degenerative disease caused by a defective gene on chromosome 4 that results in the expansion of a CAG trinucleotide repeat. It is characterized by movement abnormalities such as chorea, as well as psychiatric and cognitive dysfunction. Onset typically occurs between ages 35-45. There is currently no cure, but symptoms can be managed through medications. The disease progresses over 15-20 years from onset to death.
Huntington's Disease
Huntington's disease is a genetic disorder that causes the degeneration of neurons in the brain. It affects muscle coordination and leads to cognitive and psychiatric decline. The disease is named after George Huntington, the doctor who first described it in 1872. It is inherited in an autosomal dominant pattern, meaning there is a 50% chance of offspring inheriting the mutated gene. Common symptoms include involuntary movements called chorea, as well as issues with memory, speech, coordination and personality. The disease progresses over time and is ultimately fatal, though medication can help manage symptoms. There is currently no cure for Huntington's disease.
Huntingtons disease
Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It is inherited in an autosomal dominant pattern, meaning only one copy of the defective gene is needed to develop the disease. Common signs and symptoms include uncontrolled movements, cognitive decline, and psychiatric issues like depression. While there is no cure, medications can help reduce motor symptoms, and lifestyle interventions focused on diet, exercise, and social support can help improve quality of life for those living with Huntington's disease.
Huntington's Disease
Huntington's disease is a genetic neurodegenerative disorder characterized by defects in behavior, cognition and movement that begin in middle age. It is caused by an expanded CAG repeat in the Huntingtin gene, which is inherited in an autosomal dominant pattern. Symptoms include jerky, involuntary movements as well as mood and personality changes. Pathologically, it involves the degeneration of the caudate nucleus and putamen in the brain. There is currently no cure for Huntington's disease, though medications can help manage symptoms.
NEURODEGENERATIVE DISORDERS
Describes about the major neurodegenerative disorders such as Dementia,Alzhimers disease,Parkinsons disease,Amyotrophic lateral sclerosis,etc.Their causes,symptoms and preventative measures.
Huntington's Disease
Huntington's disease is a genetic disorder that causes certain nerve cells in the brain to break down over time. It is inherited in an autosomal dominant pattern, meaning only one parent needs to carry the gene for a child to be at risk. Common symptoms include behavioral changes, abnormal movements, dementia, and difficulty swallowing and speaking. While there is no cure, lifestyle interventions including diet, supplements, exercise and social support can help manage symptoms and potentially delay onset. The disease is caused by destruction of cells in the basal ganglia and approximately 1 in 33,333 people in the US are affected.
Frontotemporal dementia: Neural circuits, genetics and neuropathology
This document discusses frontotemporal dementia (FTD), including its subtypes, genetics, neuropathology, and clinical presentation. FTD is characterized by degeneration of the frontal and temporal lobes. The main subtypes are behavioral variant FTD, semantic dementia, and progressive nonfluent aphasia. Genetic factors like mutations in the MAPT and PGRN genes contribute to FTD. Neuropathologically, FTD involves tauopathies or TDP-43 proteinopathies. Imaging shows atrophy typically in the frontal and temporal regions depending on the subtype.
Cerebellar syndromes
This document provides an overview of cerebellar syndromes and ataxias. It discusses the clinical approach, including examining age of onset, progression, and associated neurological features. It describes different types of ataxia and localization of cerebellar lesions. Specific hereditary and metabolic causes of ataxia are outlined. Evaluation involves assessing coordination, eye movements, and differential diagnosis testing of blood, imaging and genetics.
Alzheimers Disease
1. Alzheimer's disease is a progressive brain disorder that causes memory loss and cognitive decline, and is the most common form of dementia.
2. It results from an increase in beta-amyloid proteins in the brain that leads to nerve cell death. The disease is incurable and causes impairment in memory, reasoning, language, and perception.
3. Risk factors include age over 65, genetics, hypertension, high cholesterol, diabetes, smoking, alcohol use, and mild cognitive impairment. The disease is characterized by two lesions - neuritic plaques containing beta-amyloid protein and neurofibrillary tangles containing tau protein.
Multiple sclerosis
Multiple sclerosis is a chronic disease of the central nervous system characterized by multiple areas of inflammation and demyelination in the brain, spinal cord, and optic nerves. It commonly begins in young adults and is the most common chronic neurological condition affecting young people. Lesions appear separated in space and time throughout the central nervous system. Common symptoms include visual disturbances, limb weakness, and sensory changes. The cause is thought to involve an environmental trigger in a genetically susceptible individual, leading to an immune-mediated process. While there is no cure, treatment focuses on managing relapses, modifying the disease course, and controlling symptoms.
LEWY BODY DEMENTIA
Dementia with Lewy Bodies (DLB) is the second most common cause of degenerative dementia after Alzheimer's disease. It is clinically defined by dementia, hallucinations, fluctuations in alertness, and parkinsonism. Autopsy shows Lewy Bodies in the neocortex and brainstem in 15-36% of demented cases. DLB involves a core set of features including fluctuating cognition, visual hallucinations, and spontaneous motor features of parkinsonism. It is differentiated from other dementias by its symptom profile and neuropathology.
Huntington's disease
In this we will study basically what's the huntington's disease is, its cause,symptoms, detection, treatment.
Diagnosis of huntington's disease
Huntington's disease is a genetic disorder that causes the degeneration of brain cells. It is characterized by progressive movement, cognitive, and psychiatric impairment. The disease is caused by a defective gene that results in an abnormal protein that builds up in brain cells and causes their death. Diagnosis is based on examinations of motor and sensory symptoms, neuropsychological testing, and genetic testing to detect the defective gene. While there is no cure, treatments can help manage symptoms, but not stop the progression of the disease. Researchers are studying potential treatments like gene therapies, stem cell transplants, and drugs to slow the course of Huntington's disease.
Hyperkinetic Motor Disorders.pptx
This document discusses various hyperkinetic motor disorders including tremor, dystonia, chorea, tics, myoclonus, and hemiballismus. It defines each disorder and describes their typical presentations, causes, pathophysiology, and treatment approaches. Essential tremor, Parkinson's disease, Huntington's disease, Sydenham's chorea, Tourette syndrome, and other conditions are explained in further detail. Overall, the document provides a comprehensive overview of hyperkinetic movement disorders for medical professionals.
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Huntington's Disease
Huntington's disease is a genetic neurological disorder that causes the progressive breakdown of nerve cells in the brain. It typically manifests in a person's 30s or 40s with motor, cognitive, and psychiatric symptoms. The motor symptoms include involuntary writhing movements and problems with voluntary movement. Cognitive symptoms involve difficulties with tasks, flexibility, impulsivity, and processing speed. Common psychiatric issues are depression, OCD, mania, and bipolar disorder. The disease is caused by a loss of GABA and acetylcholine-producing neurons in the brain due to a defective gene. While there is no cure, treatments aim to support patients through diet, exercise, and psychosocial support.
Huntingtons disease
Huntington's disease is a genetic disorder that causes brain cells to waste away over time. It is passed down through families and results from a defective gene on chromosome 4 that causes an excess of the protein CAG. The disease has two types - adult onset which occurs in one's 30s-40s and is more common, and childhood onset which happens at a young age in rare cases. Signs and symptoms include involuntary movements, cognitive and psychiatric problems, and eventually death around 15-20 years after diagnosis usually from infection or sometimes suicide.
Huntington's Disease
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It is caused by a mutated gene on chromosome 4 that results in an abnormal protein damaging brain cells. Symptoms start with mood or movement changes and progress to uncontrolled movements and loss of mental abilities. Currently there is no cure, but medications can help treat symptoms.
Huntington disease
Huntington disease is a rare genetic disorder that is characterized by uncontrolled movements, emotional problems, and loss of thinking ability
Alzheimer’s disease ppt
Alzheimer's disease is a progressive neurodegenerative disease that causes loss of neurons and synapses in the brain. The main pathological hallmarks are extracellular amyloid beta plaques and intraneuronal neurofibrillary tangles. Current treatments only temporarily improve cognitive symptoms but do not stop progression of the disease. New treatments are needed to both maintain cognitive abilities and halt the underlying disease process.
Huntington
Huntington's disease is a neurodegenerative genetic disorder that causes the progressive breakdown of nerve cells in the brain, especially in the basal ganglia. It affects movement, cognition, and psychiatric functions and is caused by a defective gene inherited from a parent. Symptoms typically appear between ages 30-50 and include involuntary movements, cognitive decline, and psychiatric issues like depression. While there is no cure, treatment aims to reduce symptoms and complications through medications, speech/occupational/physical therapy, and supportive care.
Huntingtons chorea- Genetics
Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It is caused by a mutated gene that results in elongated repeats of the amino acid glutamine, which leads to the death of neurons in the basal ganglia. The primary symptoms include movement abnormalities such as chorea, cognitive decline, and psychiatric issues like depression. While there is currently no cure, treatment aims to manage symptoms and provide overall support through diet, exercise, and psychosocial interventions to help patients live as positively as possible.
HUNGTINGTON'S CHOREA
Huntington's disease is a progressive neurodegenerative disorder caused by a defective gene that results in the production of an abnormal protein called huntingtin. It affects movement, cognition, and personality. Symptoms include uncontrolled movements, impaired walking and talking, and mood and cognitive changes. There is currently no cure, but treatments can help manage symptoms. The disease is inherited in an autosomal dominant pattern and typically appears in middle adulthood.
Huntington disease final
Huntington disease is a rare, degenerative disease caused by a defective gene on chromosome 4 that results in the expansion of a CAG trinucleotide repeat. It is characterized by movement abnormalities such as chorea, as well as psychiatric and cognitive dysfunction. Onset typically occurs between ages 35-45. There is currently no cure, but symptoms can be managed through medications. The disease progresses over 15-20 years from onset to death.
Huntington's Disease
Huntington's disease is a genetic disorder that causes the degeneration of neurons in the brain. It affects muscle coordination and leads to cognitive and psychiatric decline. The disease is named after George Huntington, the doctor who first described it in 1872. It is inherited in an autosomal dominant pattern, meaning there is a 50% chance of offspring inheriting the mutated gene. Common symptoms include involuntary movements called chorea, as well as issues with memory, speech, coordination and personality. The disease progresses over time and is ultimately fatal, though medication can help manage symptoms. There is currently no cure for Huntington's disease.
Huntingtons disease
Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It is inherited in an autosomal dominant pattern, meaning only one copy of the defective gene is needed to develop the disease. Common signs and symptoms include uncontrolled movements, cognitive decline, and psychiatric issues like depression. While there is no cure, medications can help reduce motor symptoms, and lifestyle interventions focused on diet, exercise, and social support can help improve quality of life for those living with Huntington's disease.
Huntington's Disease
Huntington's disease is a genetic neurodegenerative disorder characterized by defects in behavior, cognition and movement that begin in middle age. It is caused by an expanded CAG repeat in the Huntingtin gene, which is inherited in an autosomal dominant pattern. Symptoms include jerky, involuntary movements as well as mood and personality changes. Pathologically, it involves the degeneration of the caudate nucleus and putamen in the brain. There is currently no cure for Huntington's disease, though medications can help manage symptoms.
NEURODEGENERATIVE DISORDERS
Describes about the major neurodegenerative disorders such as Dementia,Alzhimers disease,Parkinsons disease,Amyotrophic lateral sclerosis,etc.Their causes,symptoms and preventative measures.
Huntington's Disease
Huntington's disease is a genetic disorder that causes certain nerve cells in the brain to break down over time. It is inherited in an autosomal dominant pattern, meaning only one parent needs to carry the gene for a child to be at risk. Common symptoms include behavioral changes, abnormal movements, dementia, and difficulty swallowing and speaking. While there is no cure, lifestyle interventions including diet, supplements, exercise and social support can help manage symptoms and potentially delay onset. The disease is caused by destruction of cells in the basal ganglia and approximately 1 in 33,333 people in the US are affected.
Frontotemporal dementia: Neural circuits, genetics and neuropathology
This document discusses frontotemporal dementia (FTD), including its subtypes, genetics, neuropathology, and clinical presentation. FTD is characterized by degeneration of the frontal and temporal lobes. The main subtypes are behavioral variant FTD, semantic dementia, and progressive nonfluent aphasia. Genetic factors like mutations in the MAPT and PGRN genes contribute to FTD. Neuropathologically, FTD involves tauopathies or TDP-43 proteinopathies. Imaging shows atrophy typically in the frontal and temporal regions depending on the subtype.
Cerebellar syndromes
This document provides an overview of cerebellar syndromes and ataxias. It discusses the clinical approach, including examining age of onset, progression, and associated neurological features. It describes different types of ataxia and localization of cerebellar lesions. Specific hereditary and metabolic causes of ataxia are outlined. Evaluation involves assessing coordination, eye movements, and differential diagnosis testing of blood, imaging and genetics.
Alzheimers Disease
1. Alzheimer's disease is a progressive brain disorder that causes memory loss and cognitive decline, and is the most common form of dementia.
2. It results from an increase in beta-amyloid proteins in the brain that leads to nerve cell death. The disease is incurable and causes impairment in memory, reasoning, language, and perception.
3. Risk factors include age over 65, genetics, hypertension, high cholesterol, diabetes, smoking, alcohol use, and mild cognitive impairment. The disease is characterized by two lesions - neuritic plaques containing beta-amyloid protein and neurofibrillary tangles containing tau protein.
Multiple sclerosis
Multiple sclerosis is a chronic disease of the central nervous system characterized by multiple areas of inflammation and demyelination in the brain, spinal cord, and optic nerves. It commonly begins in young adults and is the most common chronic neurological condition affecting young people. Lesions appear separated in space and time throughout the central nervous system. Common symptoms include visual disturbances, limb weakness, and sensory changes. The cause is thought to involve an environmental trigger in a genetically susceptible individual, leading to an immune-mediated process. While there is no cure, treatment focuses on managing relapses, modifying the disease course, and controlling symptoms.
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Dementia with Lewy Bodies (DLB) is the second most common cause of degenerative dementia after Alzheimer's disease. It is clinically defined by dementia, hallucinations, fluctuations in alertness, and parkinsonism. Autopsy shows Lewy Bodies in the neocortex and brainstem in 15-36% of demented cases. DLB involves a core set of features including fluctuating cognition, visual hallucinations, and spontaneous motor features of parkinsonism. It is differentiated from other dementias by its symptom profile and neuropathology.
Huntington's disease
In this we will study basically what's the huntington's disease is, its cause,symptoms, detection, treatment.
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Diagnosis of huntington's disease
Huntington's disease is a genetic disorder that causes the degeneration of brain cells. It is characterized by progressive movement, cognitive, and psychiatric impairment. The disease is caused by a defective gene that results in an abnormal protein that builds up in brain cells and causes their death. Diagnosis is based on examinations of motor and sensory symptoms, neuropsychological testing, and genetic testing to detect the defective gene. While there is no cure, treatments can help manage symptoms, but not stop the progression of the disease. Researchers are studying potential treatments like gene therapies, stem cell transplants, and drugs to slow the course of Huntington's disease.
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This document discusses various hyperkinetic motor disorders including tremor, dystonia, chorea, tics, myoclonus, and hemiballismus. It defines each disorder and describes their typical presentations, causes, pathophysiology, and treatment approaches. Essential tremor, Parkinson's disease, Huntington's disease, Sydenham's chorea, Tourette syndrome, and other conditions are explained in further detail. Overall, the document provides a comprehensive overview of hyperkinetic movement disorders for medical professionals.
Huntingtonsdisease
Huntington’s disease is a rapidly progressive genetic neurodegenerative disease that leads to dementia.
huntingtonsdisease1-210915055835.pptx...
Huntington's disease is an inherited neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain. It is caused by an expanded CAG repeat in the HTT gene, which results in the production of abnormal huntingtin protein that damages brain cells over time. Symptoms include involuntary movements, cognitive decline, and psychiatric problems. There is currently no cure, but medications and therapies can help manage symptoms.
huntington chorea for nursing
Huntington's disease (HD) is a rare inherited neurodegenerative disorder that causes uncontrolled movements, cognitive decline and psychiatric problems. It is caused by a mutated gene on chromosome 4 that produces an abnormal protein which causes the death of brain cells. HD is passed on in an autosomal dominant pattern and typically appears in mid-adult life. There is currently no cure, but treatments can help manage symptoms and nursing care focuses on safety, nutrition, mobility and quality of life.
Huntington's chorea
Huntington's disease is a genetic neurodegenerative disorder that affects movement, thinking, and behavior. It is caused by an expanded CAG repeat in the HTT gene, which produces a defective huntingtin protein. Symptoms typically appear in mid-life and include involuntary movements (chorea), cognitive decline, and psychiatric problems. There is currently no cure, but treatments can help manage symptoms such as chorea, OCD, and irritability. The disease is inherited in an autosomal dominant pattern and testing is available to identify individuals with the expanded HTT gene.
huntington disease presentation by archana.pdf
Huntington chorea is chronic, progressive, hereditary, autosomal ,neuro degenerative disease of the nervous system that results in progressive involuntary choreiform movement and dementia.
Understanding Huntington's Disease: Causes, Symptoms, and Treatment Options
Understanding Huntington's Disease: Causes, Symptoms, and Treatment OptionsThe Lifesciences Magazine
Huntington's disease is caused by a mutation in the HTT gene, located on chromosome 4. This mutation leads to the production of an abnormal form of the huntingtin protein, which accumulates in brain cells, particularly in the basal ganglia and cerebral cortex.Huntington's Disease, Potential Therapies
The document discusses therapy for Huntington's disease. The main goals of therapy are to treat motor manifestations like chorea, treat psychiatric manifestations like depression and psychosis, provide supportive therapy, halt disease progression, and potentially reverse neurodegeneration. Medications are used to treat symptoms, while research focuses on disease-modifying therapies like creatine supplementation, HDAC inhibitors that alter gene expression, neural transplants, and stem cell therapies. Ongoing clinical trials evaluate compounds that could slow functional decline by targeting pathways involved in Huntington's pathology.
Huntington's Disease
Huntington's disease is an inherited neurodegenerative disorder that results in uncontrolled movements, emotional problems, and loss of thinking ability. It is caused by an expanded CAG repeat in the HTT gene, which produces a mutant huntingtin protein that leads to the degeneration of neurons in the basal ganglia. Symptoms usually appear between 30-50 years of age and include chorea, psychiatric disorders, and cognitive decline. There is no cure, but medications can help manage symptoms, and genetic testing can determine risk. Nursing care involves education, encouraging activity, managing behaviors, and safety during feeding.
Huntington
Huntington's disease is a neurodegenerative genetic disorder that causes progressive breakdown of nerve cells in the brain, especially in the basal ganglia. It affects movement, cognition, and psychiatric functions. Symptoms usually appear between 30-40 years of age and include involuntary movements, cognitive decline, and psychiatric issues like depression. It is caused by a defective gene that is inherited in an autosomal dominant pattern. While there is no cure, treatment aims to reduce symptoms and complications through medications, speech/occupational/physical therapy, and supportive care.
Hyperkinetic movement disorder.pptx
This document provides an overview of hyperkinetic movement disorders, including their anatomy, etiology, pathophysiology, and specific types such as tremor, chorea, and myoclonus. It discusses essential tremor in detail, describing its prevalence, diagnostic criteria, clinical presentation including improvement with alcohol, and treatment options including medications, botulinum toxin injections, and deep brain stimulation. It also covers cortical and subcortical myoclonus, distinguishing between localized cortical versus more widespread cortical-subcortical forms.
antipsychotics.pdf
Antipsychotics, also known as neuroleptics,[1] are a class of psychotropic medication primarily used to manage psychosis (including delusions, hallucinations, paranoia or disordered thought), principally in schizophrenia but also in a range of other psychotic disorders.[2][3] They are also the mainstay together with mood stabilizers in the treatment of bipolar disorder.[4]
Antipsychotic
Drug class
Zyprexa.PNG
Olanzapine, an example of a second-generation (atypical) antipsychotic
Class identifiers
Synonyms
Neuroleptics, major tranquilizers[1]
Use
Principally: Schizophrenia, Schizoaffective disorder, Dementia, Tourette syndrome, Bipolar disorder, irritability in autism spectrum disorder
Clinical data
Drugs.com
Drug Classes
External links
MeSH
D014150
In Wikidata
Prior research has shown that use of any antipsychotic is associated with smaller brain tissue volumes,[5][6] including white matter reduction[7] and that this brain shrinkage is dose dependent and time dependent.[5][6] A more recent controlled trial suggests that second generation antipsychotics[8] combined with intensive psychosocial therapy[9] may potentially prevent pallidal brain volume loss in first episode psychosis.[10][7]
The use of antipsychotics may result in many unwanted side effects such as involuntary movement disorders, gynecomastia, impotence, weight gain and metabolic syndrome. Long-term use can produce adverse effects such as tardive dyskinesia, tardive dystonia, and tardive akathisia.
Prevention of these adverse effects is possible through concomitant medication strategies including use of beta-blockers. Currently, treatments for tardive diseases are not well established.
First-generation antipsychotics (e.g. chlorpromazine), known as typical antipsychotics, were first introduced in the 1950s, and others were developed until the early 1970s.[11] Second-generation antipsychotics, known as atypical antipsychotics, were introduced firstly with clozapine in the early 1970s followed by others (e.g. risperidone).[12] Both generations of medication block receptors in the brain for dopamine, but atypicals tend to act on serotonin receptors as well. Neuroleptic, originating from Greek: νεῦρον (neuron) and λαμβάνω (take hold of)—thus meaning "which takes the nerve"—refers to both common neurological effects and side
Book
This document discusses the evaluation of short stature in children. It begins by outlining the relevant history to obtain, including perinatal history, family history, past medical history, and systemic reviews. The physical examination focuses on assessing proportionate versus disproportionate short stature and examining for dysmorphic features or other abnormalities. Investigations outlined include bone age, hormonal assays, karyotyping, and tests to investigate for underlying chronic illnesses. Treatment involves treating any identified cause, such as growth hormone deficiency, as well as supportive measures like nutrition, vitamins, and psychological support.
mood disorder.ppt.pptx
This document summarizes research on the genetics and pharmacogenetics of mood disorders. It discusses how genome-wide association studies have identified several genes linked to bipolar disorder and major depressive disorder. Specifically, the CACNA1C gene was found to be strongly associated with bipolar disorder. Variations in genes involved in neuroplasticity and inflammation may help explain individual differences in risk. Pharmacogenetic research has also found genetic factors influence patients' responses to antidepressants by impacting drug metabolism and target receptors in the brain. Understanding a patient's genetic profile could someday help clinicians personalize treatment selection and dosing.
Huntigton's disease
Huntington's disease is an inherited, progressive brain disorder that causes uncontrolled movements, emotional issues, and loss of thinking abilities. It is caused by a defective gene that is inherited from a parent. Early symptoms vary but may include mood swings, personality changes, and abnormal body movements. Currently there is no cure, but medications and therapies can help manage symptoms. The condition steadily worsens over time and is ultimately fatal.
Management of First Episode Psychosis (2) [Autosaved].pptx
management of first episode psychosis. the article is written dr deeptanshu agarwal of nirvan hospital kalyanpur lucknow.
Genetics presentation
introduction, history, prevalence, characteristics, symptoms, facts, diagnosis, treatment, life expectancy, future.
Allele specific silencing of mutant huntingtin presentation.ppt
This document summarizes research on using antisense oligonucleotides (ASOs) to selectively target and silence the mutant huntingtin gene in Huntington's disease. The researchers found that ASOs can be designed to target three single nucleotide polymorphisms that account for 85% of Huntington's cases. A panel of three allele-specific ASOs could potentially treat most patients. The ASOs were effective at reducing mutant huntingtin in adult neurons both in vitro and in vivo, indicating potential as a treatment for this currently incurable neurodegenerative disorder.
population genetics
Huntington's disease is an autosomal dominant neurological disorder that results from a genetically progressive degeneration of neurons in certain areas of the brain, specifically the basal ganglia. It affects movement coordination. About 30,000 people in the US have been diagnosed, and 200,000 are at risk of inheriting it. The gene responsible is located on chromosome 4 and causes an excess number of glutamine amino acids due to an abnormal expansion of CAG repeats in the DNA coding for the huntingtin protein. There is a 50% chance of inheriting the mutated gene from an affected parent and passing it on to children. While there is no cure, various drugs can help manage symptoms, and new techniques like in vitro fertilization with
Similar to Huntington’s Disease (20)
Understanding Huntington's Disease: Causes, Symptoms, and Treatment Options
Understanding Huntington's Disease: Causes, Symptoms, and Treatment Options
Management of First Episode Psychosis (2) [Autosaved].pptx
Management of First Episode Psychosis (2) [Autosaved].pptx
Allele specific silencing of mutant huntingtin presentation.ppt
Allele specific silencing of mutant huntingtin presentation.ppt
Huntington’s Disease
- 3. Objectives • To explore Huntington’s disease as a neurological disorder. • Describe the genetics of the disorder. • Describe testing and treatment options.
- 4. What is Huntington’s Disease • Huntington’s disease is a progressive neurodegenerative disorder that exhibits a dominant pattern of inheritance (50%). • It is most prevalent in people of Western European descent (more than 15 incidences per 100,000 people). • It usually strikes affected individuals during the fourth decade of life (40 years). • It is characterized by abnormal movement, cognitive impairment, mood disorders, and behavioral changes. The disorder ultimately leads to death (usually 15-18 years after onset of symptoms).
- 5. Genetics and Pathology of Huntington’s Disease • Huntington’s disease is an autosomal dominant disease with a 100% phenotypic penetrance. • It is a result of a mutation of the HTT gene on chromosome 4, which codes for a protein that is important during the early neuronal development of the human fetus. • The product of the HTT gene is called huntingtin. • Though the exact role is still unknown, within cells, the gene and its associated product are known to be involved in chemical signaling, transporting materials, attaching to proteins, and protecting the cell from self-destruction.
- 6. CHROMOSOME 4
- 7. Genetics and Pathology Continued • Remember the 4 base nucleotides??? (A, G, T, C) • Huntington's disease is a “trinucleotide repeat mutation disorder”. • Under normal conditions, HTT gene has a certain number of CAG repeats. • Under abnormal conditions, the number of CAG repeats is increased significantly.
- 8. Genetics and Pathology Continued • Normal Number of Repeats: fewer than 26 • Intermediate Num. of Repeats: 27-35 (Meiotic ally Unstable in Males) • HD-causing : 36 and more (can go as high up as 120 repeats!!!)
- 9. Pathology and Genetics Continued • The extra repeats result in the gene abnormality, which in turn results in a misshapen version of the huntingtin protein in the area of Exon 1. • The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting their normal functions. • This process particularly affects regions of the brain that help coordinate movement and control thinking and emotions (the striatum, Globus pallidum and cerebral cortex).
- 10. Testing for HD • Initial symptoms of HD resemble symptoms of many other neurological diseases. • Careful family history and a close neurological examination are done first. • Direct testing of chromosome 4 provides definitive diagnosis. • Pre-natal testing is recommended for the at risk population.
- 12. Treatment of HD • No cure is available to this day. • The aim of the therapy is to mask the symptoms of disease progression. • The abnormal movements (chorea) can be controlled with antipsychotic agents (Haloperidol) and muscle relaxants (benzodiazepines). • Anti-Parkinsonian agents (levodopa & carbidopa) can be used to reduce muscle stiffness and rigidity. • Supportive care will be needed at some point in the person’s life
- 13. Treatments of the Future • Studies are continuous and many promising leads are found. • Such pharmacologic agents as apoptosis inhibitors, huntingtin proteolysis, huntingtin phosphorylation inhibitors. • Another approach is gene therapy. Silencing abnormal genetic repeats in a targeted fashion by using interference RNA (RNAi) and antisense- oligonucleotides. • Lastly, direct neural transplantation is being investigated. However, recent studies in mice have revealed a troublesome discovery. Mutant huntingtin is capable of spreading into the transplanted tissue.
- 14. Works Cited • Warby, Simon. Huntington Disease. U.S. National Library of Medicine, 11 Dec. 2014. Web. 22 Aug. 2015. http://www.ncbi.nlm.nih.gov/books/NBK1305/. • Myers, Richard. "Huntington’s Disease Genetics." NeuroRx. The American Society for Experimental NeuroTherapeutics, Inc., 1 Apr. 2004. Web. 22 Aug. 2015. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC 534940/. • “HTT Gene." Genetics Home Reference. U.S. National Library of Medicine, 18 Aug. 2015. Web. 22 Aug. 2015. http://ghr.nlm.nih.gov/gene/HTT.