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10 Cards in this Set

  • Front
  • Back
Which diseases are mostly AR, are due to a deficiency of a specific enzyme of sphingolipid mucopolysaccharide or mucolipid catabolism, and cause neuronal death due to accumulation of substrate enzyme in neuronal lysozomes?
Neuronal Storage Diseases
Which diseases are selective for there destruction of myelin by the deficiency of lysosomal or peroxisomal enzymes, and have a clinical presentation of loss of motor skill, spasticity, hypotonia, and ataxia, and are generally more severe with earlier onset?
Leukodystrophies
What is the inheritance pattern of AdrenoLeukoDystrophy?
X-linked
Why do mitochondial encephalomyopaties usually arise?
Mutation in the mitochondrial genome that causes a disorder of oxidative phophorylation, involving the skeletal muscles
Which vitamin deficiency causes focal hemorrhage and necrosis of the mammilary bodies and of the 3rd and 4th ventricles and exhibits lesions that are in the medial dorsal nucleus of the thalamus (memory disturbance)?
Thiamin (B1)
What is the syndrome of acute psychosis followed by loss of memory and confabulation, associated with beriberi, gastric disorders, and alcoholism?
Wernicke-Korsakoff Syndrome
Which metabolic disturbance resemble hypoxia, and is particular for a severe effect on large pyramidal neurons, the Hippocampus, and purkinje cells of the cerebellum, and may result in pseudo - laminar necrosis of the CC if prolonged?
Hypoglycemia
Why is rapid rehydration of a hperglycemic patient dangerous?
osmotic pressure can pull water into the brain
What is used to treat cerebral edema in Hyperglemic states?
mannitol
What is the primary cellular response in hepatic encephalopathy, and are neuronal abnormalities involved?
Cellular response is glial with no neuronal involvement