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19 Cards in this Set
- Front
- Back
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What are 2 classes of genetic metabolic diseases?
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1.) Neuronal Storage Diseases
2.) Leukodystrophies |
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What are 2 classes of toxic/acquired metabolic diseases?
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1.) Vitamin deficiencies
2.) Metabolic and toxic disturbances |
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What type of disease is Tay Sachs (what class)?
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Genetic metabolic disease: neuronal storage disease
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What type of disease is Lipofuschin (what class)?
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Genetic metabolic disease: neuronal storage disease
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What type of disease is Krabbe disease (what class)?
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Genetic metabolic disease: leukodystrophy
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What are neuronal storage diseases, what causes them in general?
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Autosomal recessive enzyme deficiency which results in an accumulation of the enzyme substrate within neuronal lysosomes and can cause decreased cognitive function. The ballooned neuron is typical of storage diseases. Essentially, there are substrates that should be broken down in your neuron, and the enzyme to do it is missing.
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What enzyme is missing in Tay Sachs and what accumulates?
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Deficiency in hexosaminidase A which accumulates gangliosides in all tissues. Disease begins in early infancy and causes developmental delays, paralysis, and loss of neurological function. It leads to death within several years
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What is essentially diagnostic of Tay Sachs on a physical exam?
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Cherry red spot on retina is virtually diagnostic of disease
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What is going on in Neuronal ceroid lipofuscinoses?
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Deficiency in enzymes involved with protein modification and degradation so that lipofuschin accumulates within neurons and leads to neuronal dysfunction. Causes blindness, mental and motor deterioration and seizures. Onset is childhood to adulthood
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What kind of abnormalities are caused by leukodystrophies?
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Groups of disorders characterized by myelin abnormalities, most are autosomal recessive and involve lysosomal enzymes. Cause deterioration of motor skills, spasticity, hypotonia, and ataxia
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What is krabbe disease?
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Deficiency in galactosylcermidase, so that a galactocerebroside accumulates and gets CONVERTED to galactosylsphingosine which is toxic to oligodendrocytes. This leads to a loss of myelin and oligodendrocytes in the CNS. The onset is around 3-6 months and causes rapidly progressive muscle stiffness, weakness, and often the first sign is in the hand.
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What does B12 deficiency cause?
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Anemia that is reversible but can cause subacute combined degeneration of spinal cord. Ascending and descending tracts are affected, and it is reversible until paraplegial occurs.
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What does B1 (Thiamine deficiency) cause? What is it usually associated with?
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Usually associated with alcoholism and can cause wernicke encephalopathy and korsakoff syndrome
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What is Wernicke encephalopathy?
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It's related to B1 deficiency. Confusion, opthalmoplegia, and ataxia. From necrosis of mamillary bodies. IT IS ACUTE AND REVERSIBLE
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What is Korsakoff syndrome?
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It is related to B1 deficiency. Memory disturbances, confabulation, cysts and loss of mamillary bodies and thalamic lesions. It is PROLONGED AND MOSTLY IRREVERSIBLE
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What can abnormal blood sugar cause with regards to neurology?
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Hypoglycemia can affect the large pyramidal neurons of the cortex mainly
Hyperglycemia is most commonly seen in diabetes and can be associated with ketoacidosis and hyperosmolar coma. Leads to dehydration, confusion, stupor, and coma |
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What does carbon monoxide do to the brain?
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Injury is due to hypoxia and you can see demyelination of white matter tracts. People with CO poisoning turn cherry red and cortex, hippocampus, and purkinje cells are most vulnerable
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What does methanol poisoning do to the body?
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Preferentially affects the retina and causes degeneration of ganglion cells and may lead to blindness and cause brain and respiratory centers to shut down
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What does ethanol poisoning do to the body?
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Acute effects are reversible, but chronic effects are not. Alcohol preferentially effects the cerebellum and causes truncal ataxia and unsteady gate, along with nystagmus.
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