NEUROLOGICAL DISORDERS

CHILUNGAMO BERTHIA M’MANGA (CHICHI)

ANNE MACHERA (Anne)

CHINUN B. (CHI)

AGENDA

Neurological DisordersDisorders of DevelopmentDegenerative Disorders

What we know now::We are in the beginning of studying the brain.

Neurological Problem

Not Psychological Problem

TUMOR

VULNERABILITY OF THE BRAINAlthough the brain is the most protected organ, many pathological processes can damage it or disrupt its functioning. A lot of things about the functions of the human brain has been learned by studying people with brain damage. Major categories of the neuropathological conditions E.G Tumors, seizure disorder, cerebrovascular accidents, disorders of development, degenerative disorders, and disorders caused by infectious diseasesbehavioral effects of these conditions and their treatments

WHAT IS A TUMOR ?

A tumor is a mass of cells whose growth is uncontrolled and serves no useful function

1. BENIGN (Harmless)Is a kind of tumor that has a distinct border between the mass of the tumor cells and the surrounding tissue.Does not re-grow.

2. MALIGNANT (Cancerous)This kind of tumor grows by infiltrating the surrounding tissue.Reproduces

How do tumors damage the brain?

compression and infiltration

1. Compression:

A benign tumor occupies space and thus pushes against the brain.

The compression can directly destroy brain tissue, or blocks the flow of cerebrospinal fluid and causes hydrocephalus.

2. Infiltration

malignant tumors, cause both compression and infiltration.

As a malignant tumor grows, it invades the surrounding region and destroys cells in its path.

Types of brain tumors1. Gliomas:

Glioblastoma multiformae (poorly differentiated glial cells)

Astrocytoma (astrocytes)

Ependymoma (ependymal cells that line ventricles)

Medulloblastoma (cells in roof of fourth ventricle)

Oligodendrocytoma (oligodendrocytes)

2. Meningioma (cells of the meninges)

3. Pituitary adenoma (hormone-secreting cells of the

pituitary gland)

4. Neurinoma (Schwann cells or cells of connective tissue

covering cranial nerves)

5. Metastatic carcinoma (depends on nature of primary

tumor)

6. Angioma (cells of blood vessels)

7. Pinealoma (cells of pineal gland)

SEIZURE DISORDERS

A seizure is a sudden surge of electrical activity in the brain.seizure disorder instead of Epilepsy

The electrical activity is caused by complex chemical changes that occur in nerve cells.

Brain cells either excite or inhibit other brain cells from sending messages. Seizures are not disease but symptoms.

Seizure disorders cont… In ancient religious traditions, seizures were considered to be God’s punishment or the work of demons.

However, as early as the fifth century B.C.E., Hippocrates noted that head injuries to soldiers and gladiators sometimes led to seizures like the ones he saw in his patients, which suggested that seizures had a physical cause (Hoppe, 2006).

Classification of seizure disorders

• 1. Tonic-clonic (Grand mal)• 2. Absence (Petit mal)• 3. Atonic (loss of muscle tone: temporary paralysis

1.Generalized seizures(with no

apparent local onset)

• 1. Simple Partial seizure (no major change in conscious)• a. Localized motor seizure• b. Motor seizure, with progression of movements as seizure spreads along the

primary motor cortex• c. Sensory (somatosensory, visual, auditory, olfactory, vestibular)• d. Psychic (forced thinking, fear, anger, etc.)• e. Autonomic (e. g., sweating, salivating, etc.)

• 2. Complex Partial seizure (Altered consciousness)

2.Partial seizures (starting from a

focus)

EFFECTS OF SEIZURES ON DIFFERENT BRAIN LOBES

Occipital • Visual symptoms such as spots of color, flashes of light, or temporary blindness.

parietal• Can evoke somatosensations, such as feelings of pins and needles or heat and cold.

Temporal

• May cause hallucinations that include old memories; presumably, neural circuits involved in these memories are activated by the spreading excitation

• Seizures can also occur in Children.

CAUSES OF SEIZURES

1. Scarring (common cause)-produced by an injury, a stroke, a developmental abnormality, or the irritating effect of a growing tumor.

2. Various drugs and infections that cause a high fever can also produce seizures (Berkovic et al., 2006).

3. In addition, seizures are commonly seen in alcohol or barbiturate addicts who suddenly stop taking the drug.

4. Genetic factors contribute to the incidence of seizure disorders (Berkovic et al., 2006). Genes control the production of ion chanels.

TREATMENT OF SEIZURES1. Seizure disorders are treated with anticonvulsant drugs, many of which work by increasing the effectiveness of inhibitory synapses. Most disorders respond well enough that the patient can lead a normal life. Sometimes drugs provide little or no help.

2. Some times brain surgery is still required. The surgeon removes the region of the brain affected

Mrs. R.’s treatment, described in the opening case of this chapter, was a different matter; in her case the removal of a meningioma eliminated the source of the irritation and ended her seizures. No healthy brain tissue was removed.

CEREBROVAS CULAR ACCIDENTS (CVA)

CEREBROVASCULAR ACCIDENTS (CVA)

Cerebrovascular accident (CVA) is the medical term for a stroke. A stroke is when blood flow to a part of your brain is stopped.

Types of cerebrovascular accident

Ischemic stroke (caused by blockage)

An ischemic stroke is the most common and occurs when a blood clot blocks a blood vessel and prevents blood and oxygen from getting to a part of the brain. There are two ways that this can happen. One way is an embolic stroke, which occurs when a clot forms somewhere else in your body and gets lodged in a blood vessel in the brain. The other way is a thrombotic stroke, which is when the clot forms in a blood vessel within the brain.

Hemorrhagic stroke

A hemorrhagic stroke occurs when a blood vessel ruptures, or hemorrhages, and then prevents blood from getting to part of the brain. The hemorrhage may occur in any blood vessel in the brain, or it may occur in the membrane surrounding the brain

Both types of stroke deprive part of the brain of blood and oxygen, causing brain cells to die.

SYMPTOMS

Difficulty walking dizziness Loss of balance and coordination

Both types of stroke deprive part of the brain of blood and

oxygen, causing brain cells to die.

Difficulty in speaking or understanding other

speakers

Numbness or paralysis in the face, leg, and arm (one side of the

body)

Treatment for a cerebrovascular accident

Ischemic stroke treatment (Removing blockage)

A clot-dissolving drug or a blood thinner.

Aspirin to prevent a second stroke.

Injecting medicine into the brain or removing a blockage with surgery-imegency case

Hemorrhagic stroke treatment (controlling bleeding)

A drug that lowers the pressure in your brain caused by the bleeding.

Surgery to remove excess blood.

Surgery to repair the ruptured blood vessel

PREVENTIVE MEASURES 1. Maintain normal blood pressure.

2. Limit saturated fat and cholesterol intake.

3. Refrain from smoking, and drink alcohol in moderation.

4. Control diabetes.

5. Maintain a healthy weight.

6. Get regular exercise.

7. Eat a diet rich in vegetables and fruits.

TRAUMATIC BRAIN INJURY

TRAUMATIC BRAIN INJURYAlmost a third of deaths caused by injury involve Traumatic brain injury (TBI)

Traumatic brain injury can be caused by a projectile or a fall against a sharp object that fractures the skull, causing the brain to be wounded by the object or a piece of the broken skull.

Closed-head injuries do not involve penetration of the brain, but these injuries can also cause severe injury or death.

Penetrating brain injuries (also called open-head injuries) obviously cause damage to the portion of the brain that is damaged by the object or the bone.

EFFECTS OF TBI MILD

A brain injury can be classified as mild if loss of consciousness and/or confusion and disorientation is shorter than 30 minutes.

The individual has cognitive problems such as headache, difficulty thinking, memory problems, attention deficits, mood swings and frustration.

SEVERE

Severe brain injury is associated with loss of consciousness for more than 30 minutes and memory loss after the injury or penetrating skull injury longer than 24 hours.

The deficits range from impairment of higher level cognitive functions to comatose states. Survivors may have limited function of arms or legs, abnormal speech or language, loss of thinking ability or emotional problems. The range of injuries and degree of recovery is very variable and varies on an individual basis.

MECHANISMS OF INJURY These mechanisms are the highest causes of brain injury: Open head Injury,

Closed Head Injury, Deceleration Injuries, Chemical/Toxic, Hypoxia, Tumors, Infections and Stroke.

1. Open Head Injury

Results from bullet wounds, etc.

Largely focal damage

Penetration of the skull

2. Closed Head Injury

Resulting from a slip and fall, motor vehicle crashes, etc.

Focal damage and diffuse damage to axons

Effects tend to be broad (diffuse)

No penetration to the skull

TREATMENT FOR TBIThere are many different kinds of treatments available for patients of Traumatic Brain Injury (TBI).

Initial Treatment stabilizes the individual immediately following a traumatic brain injury.

Rehabilitative Care Center Treatment helps restore the patient to daily life.

Acute treatment of a Traumatic Brain Injury is aimed at minimizing secondary injury and life support.

Surgical Treatment may be used to prevent secondary injury by helping to maintain blood flow and oxygen to the brain and minimize swelling and pressure.

Disorders of Development

A common cause of mental retardation and underdevelopment is the presence of toxins that impair fetal development.

These toxins can be released from the mother to the baby through viruses from diseases such as Rubella,(German Disease), alcohol, smoking,any kind of pollution that can happen in excess in the environment eg water pollution, air pollution,land pollution.If a woman contracts a disease such as Rubella, the toxic chemicals released by the virus interfere with the chemical signals that control normal development of the brain.Most women are immunized for Rubella to prevent them from contracting it during pregnancy

Active and passive smoking have disastrous effects on the mother and unborn children. Cigarette smoke contains nearly 4 000 chemicals such as lead, cyanide and 60 other cancer causing compounds.When one smokes, the toxins get mixed in the blood, the only source of nutrients and oxygen for the baby. Nicotine and carbon monoxide work towards reducing the supply of oxygen to the baby. Smoking also lowers the chances of conceiving by at least 40%.

TOXIC CHEMICALS CONT….. Serious complications result in stilbirth,premature delivery and low birth weight. Nicotine narrows the blood vessels in one’s body, including the one in the umbilical cord, forcing the baby to breathe from a narrow passage.In both babies and adults, the lack of proper development will lead to underdeveloped growth of organs such as the heart and lungs. This can lead to breathing problems and death.The image shows how toxins caused by smoking can hinder development:

FETAL ALCOHOL SYNDROMEIngestion of alcohol can also have adverse effects on development of human beings.

For pregnant mothers this can lead to fetal alcohol development which is characterised by abnormal facial development and deficient brain development.

Tests which were done on pregnant mice which were ingested with alcohol showed similar effects.

research suggests that alcohol interferes with the growth of neurons in the developing brain and also interfering with a neural adhesion protein, a protein that helps to guide the growth of neurons.

Prenatal exposure to alcohol also appears to have direct effects on neural plasticity, alters the development neuronal cells and progenitor cells.

FETAL ALCOHOL SYNDROME (FAS)

INHERITED METABOLLIC DISORDERSThere are at least a hundred or thousands different inherited metabolic disorders that can affect the development of the brain. The most common one is Phenylket Uria.

A Few other common inherited metabolic disorders are going to be discussed.

The term metabolism refers to all biochemical processes and pathways in the body. Enzymes play a role in many of these processes and changes in their function, as a result of genetic mutation can lead to problems in these pathways, thus the term inherited.

Phenylketonuria(PKU)

This disease is caused by an inherited lack of an enzyme that converts phenylalanine (an amino acid) into tyrosine, (another amino acid.)Basically the liver cells are unable to effectively break down the amino acid called phenylalanine, which is present in most foods. When left untreated, this builds up in the bloodstream becoming toxic and over time rises to dangerous levels, damaging the brain causing mental retardation and other irreversible affects. Each person with PKU can tolerate varying levels of protein a day which needs to be spread evenly across the day to avoid spiking of phenylalanine levels. To give you an example of how extreme the PKU disorder is, one egg is equal to approximately 6 grams of protein. The average person with classic PKU can tolerate 4 to 10 grams a Day. An egg would be too much protein, and would cause blood levels to be too high and start to cause damage.

Phenylketonuria(PKU)

Phenylketonuria(PKU)

Phenylketonuria(PKU)

Treatment involves, a strictly controlled phenylalanine free diet up to the age of about 14 years old.Phenylalanine is itself anessential amino acid .

Blood levels need to be closely monitored through a home blood test which needs to be sent to the screening laboratory for results.

Although PKU is a very rare disorder, one in fifty individuals in the normal population are carriers of the gene that causes PKU. A person with PKU has inherited the defective gene from both parents and only occurs when both parents carry this gene.

Excessive amounts of phenylalanine in the blood interferes with the myeliinization of neurons in the Central Nervous System. Much of the myelinization of the cerebral hemispheres take place after birth.

So when an infant born with PKU receives foods containing phenylalanine , the amino acid accumulates and the brain fails to develop normally.

Phenylketonuria(PKU)

Galactose-mia

Galactose-mia

Galactose forms half of the sugar lactose, which is found in milk. The other half of lactose is made of glucose. There are three forms of this disease. These include type I or classic galactosemia, which is the most common and severe form of the disease, type II which is also referred to as galactokinase deficiency and type III which is also called galactose epimerase deficiency. Affected babies may develop symptoms within the first few days of life if they consume any lactose. These symptoms include the following: Convulsions Lethargy Yellowing of the skin and whites of the eyes (jaundice) Irritability Vomiting Refusal to eat Poor weight gain Bleeding Galactosemia type II causes fewer problems than type I, with infants developing cataracts, but few long-term problems. The symptoms of galactosemia type III vary in severity and can include growth and developmental delay, liver disease, cataracts, kidney problems and intellectual disability. Galactosemia is a disease that cannot be cured.

Spleen damage Cataracts Reduced bone density Premature ovarian failure in females Babies with galactosemia cannot be fed any breast milk or infant formulas containing lactose. The only way to manage galactosemia is to eliminate lactose and galactose from the diet completely. However, even when galactosemia is detected and treated early, some individuals still go on to experience long-term complications. Some of these complications include: Brain damage Speech difficulties Learning disabilities Kidney damage Liver damage. Galectosemia is also found in some non-milk products such as legumes, organ meats and as an additive in some food products. Instead, infants can be fed using soy-based formulas, meat-based formulas or another lactose-free formula.

This disorder occurs when the liver fails to properly dispose of ammonia, a waste product of protein digestion. Six enzymes are involved in the urea cycle, a process that converts the toxic substance ammonia into urea, which is excreted in the urine. The six enzymes in the urea cycle are ornithine transcarbamylase (OTC), argininosuccinic acid synthetase (ASD), arginase (ARG), arginosuccinase acid lyase (ALD), carbamyl phosphate synthetase (CPS), and N-acetylglutamate synthetase (NAGS). These enzymes are found in the liver, where they process nitrogen-containing waste products (such as ammonia) into urea. Deficiencies in any of these enzymes, also known as inborn errors of urea synthesis, can lead to urea cycle disorders.

If an enzyme or transporter in the urea cycle is deficient, ammonia may build up in the blood and reach toxic levels. An elevated ammonia level (hyperammonemia) disrupts normal brain and central nervous system function. Some of the physical

Urea Cycle Disorder

symptoms may include lack of appetite, irritability, heavy or rapid breathing, low energy, vomiting, disorientation, and combativeness. If left untreated, high ammonia levels may lead to coma, swelling of the brain, brain damage, and death In a urea cycle disorder, ammonia levels may be increased after a meal high in protein, viral illness, childbirth, and certain prescription medications.

Urea Cycle Disorder

Urea Cycle Disorder

UREA CYCLE DISORDER

Urea Cycle Disorder

Medium-Chain Acyl Dehydrogenase Deficiency (MCAD)

Medium-Chain Acyl Dehydrogenase Deficiency (MCAD)

Medium-Chain Acyl Dehydrogenase Deficiency (MCAD)

Medium-Chain Acyl Dehydrogenase Deficiency (MCAD)

DIABETES

Type 1 diabetes (T1D): The body stops producing insulin or produces too little insulin to regulate blood glucose level. Type 1 diabetes is typically diagnosed during childhood or adolescence. Insulin deficiency can occur at any age due to destruction of the pancreas by alcohol, disease, or removal by surgery. Type 1 diabetes also results from progressive failure of the pancreatic beta cells, the only cell type that produces significant amounts of insulin. People with type 1 diabetes require daily insulin treatment to sustain life.

Type 2 diabetes (T2D): Although the pancreas still secretes insulin, the body of someone with type 2 diabetes is partially or completely incapable of responding to insulin. This is often referred to as insulin resistance. The pancreas tries to overcome this resistance by secreting more and more insulin. People with insulin resistance develop type 2 diabetes when they fail to secrete enough insulin to cope with their body's demands. Type 2 diabetes is typically diagnosed during

DIABETES

adulthood, usually after age 45 years. It was once called adult-onset diabetes mellitus, or non-insulin-dependent diabetes mellitus. These names are no longer used because type 2 diabetes does occur in young people, and some people with type 2 diabetes require insulin therapy. Type 2 diabetes is usually controlled with diet, weight loss, exercise, and/or oral medications. However, more than half of all people with type 2 diabetes require insulin to control their blood sugar levels at some point during the course of their illness.

Gestational diabetes (GDM) is a form of diabetes that occurs during the second half of pregnancy. Although gestational diabetes typically resolves after delivery of a baby, a woman who develops gestational diabetes is more likely than other women to develop type 2 diabetes later in life. Women with gestational diabetes are more likely to have large babies.

Metabolic syndrome (also referred to as syndrome X) is a set of abnormalities in which insulin-resistant diabetes (type 2 diabetes) is almost always present along with hypertension (high blood pressure), high fat levels in the blood (increased serum lipids)

DIABETES

central obesity, and abnormalities in blood clotting and inflammatory responses. A high rate of cardiovascular disease is associated with metabolic syndrome.

Prediabetes is a common condition related to diabetes. In people with prediabetes, the blood sugar level is higher than normal but not yet high enough to be considered diagnostic of diabetes. Prediabetes increases a person's risk of developing type 2 diabetes, heart disease, or stroke. Prediabetes can typically be reversed (without insulin or medication) by lifestyle changes, such as losing a modest amount of weight and increasing physical activity levels. Weight loss can prevent, or at least delay, the onset of type 2 diabetes.

DIABETES

OBESITY

Genetic factors Heritability of Obesity is about 66%. Genetic factors may affect the many signaling molecules and receptors used by parts of the hypothalamus and GI tract to regulate food intake . Genetic factors can be inherited or result from conditions in utero (called genetic imprinting). Rarely, obesity results from abnormal levels of peptides that regulate food intake (eg, leptin) or abormalities in their receptors (eg, melanocortin-4 receptor)

Environmental factors Weight is gained when caloric intake exceeds energy needs. Important determinants of energy intake include portion sizes and the energy density of the food. High-calorie foods (eg, processed foods), diets high in refined carbohydrates, and consumption of soft drinks, fruit juices, and alcohol promote weight gain. Diets high in fresh fruit and vegetables, fiber, and complex carbohydrates, with water as the main fluid consumed, minimize weight gain. A sedentary lifestyle promotes weight gain.

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OBESITY

DOWN SYNDROME

DOWN SYNDROMECAUSES

DOWN SYNDROME

DOWN SYNDROMESUMMARY

Degenerative Disorder

AN ABNORMAL NEURONAL BREAKDOWN

Contents: 7 Neuronal Diseases

◉ Transmissible Spongiform Encephalopathies

◉ Parkinson's Disease ◉ Huntington’s Disease ◉ Alzheimer’s Disease ◉ Amyotrophic Lateral Scierosis ◉ Multiple Scierosis ◉ Korsakoff’s Syndrome

Medical Dilemma::

Evolving Concept ofDegeneration:

Not Aging and Normal Disorder Processes

▶ Lack of vital endurance ▶ Premature death

Pathology of Cell Death:

Necrosis an injured cell form which results in the premature death of cells in living tissue by autolysis.

It’s caused by external factors.

Apoptosis a process of programmed cell death

lead to characteristic cell changes and death.

Apoptosis and Degeneration:

Degeneration Disorders are more rapid neuronal loss, associated with deposition of

degenerative products

appear in cell molecular mechanism [normal] [apoptosis]

Degenerative Products:

protein aggregation and inclusion body formation

[Characteristic Neurodegenerative Diseases involved Deposition of Abnormal Protein Aggregation]

Degenerative cells::

“Killer cells”

Transmissible Spongiform Encephalopathies

[ Pathology ]

Transmissible Spongiform Encephalopathies[ Incidence ]

Bovine Spongiform Encephalopathy (BSE) relates to TSE brain form1st Detection: 1980s in Great Britain

Transmissible Spongiform Encephalopathies[ The Origin and cause ]

Prion Protein

[ Pathology ]

Parkinson’sDisease

Parkinson’sDisease

[ Incidence ]

[ The Origin and cause ]

Lewy Bodies & Misfolded Proteins Parkinson’sDisease

[ Symptoms]

Parkinson’sDisease

4[The Origin and cause ]

Huntington’s Disease

Huntington’s Disease[Pathology]

[ Symptoms]

Huntington’s Disease

Atrophy

Usually age 35 – 45 (+ or – 17 years)

Men and women equally

Younger people with Huntington's disease often have more severe case, and symptoms may progress more quickly

[The Origin and cause ]

Alzheimer’s Disease

[Pathology]

Alzheimer’s Disease

[ Symptoms]

Alzheimer’s Disease

[The Origin and cause ]

AmyotrophicLateralSclerosis

[Pathology]

AmyotrophicLateralSclerosis

[ Symptoms]

AmyotrophicLateralSclerosis

Our Truth::

90% of these deceases we know “HOW” it happens But we don’t know “WHY” it happens.

Key for the Future::“Stem Cell”

Understand and Carefor these patients today

Nothing can guarantee for you, so we all need..

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