shrinks dramatically; nerve cell death and tissue loss
- Cardinal signs: plaques (abnormal clusters of protein fragments) and
tangles (twisted strands of another protein)
2. How is Alzheimer's treated?: - There is no cure, but there are
pharmacological and non-pharmacological treatments
- Cholinesterase inhibitors
- Memantine (namenda)
3. What are cholinesterase inhibitors prescribed for?: - To treat symptoms
relat- ed to memory, thinking, language, judgment, and other processes
- Helps delay or slow the worsening of symptoms
4. What does cholinesterase inhibitors do?: - Prevent the breakdown of
acetyl- choline, a chemical messenger that is important for learning and memory
- Supports communication among nerve cells by keeping the acetylcholine high
5. What are some commonly prescribed cholinesterase inhibitors?:
- Donepezil (aricept)
- Galantamine (razadyne)
- Rivastigmine (exeleon)
6. Which cholinesterase inhibitor can be used for all stages of Alzheimer's?:
- Donepezil (aricept)
7. Which cholinesterase inhibitor can be used for mild-to-moderate stages
of Alzheimer's?: - Galantamine (razadyne)
- Rivastigmine (exeleon)
8. Which cholinesterase inhibitor can be used for mild-to-
moderate Alzheimer's and Parkinson's?: - Rivastigmine (exeleon)
9. What medication combination is used to treat moderate-to-
severe Alzheimer's?: - Memantine (namenda) and donepezil (aricept)
10. What is memantine (namenda) used for?: - Prescribed to improve
memory, attention, reason, language, and the ability to perform simple tasks
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,- Can be used alone or with other Alzheimer's disease treatments
11. How does memantine (namenda) work?: - Regulates the activity of
glutamate, a chemical involved in information processing, storage, and retrieval
- Improves mental functioning and ability to perform daily activities for some people
12. What is the difference in MOA between cholinesterase inhibitors
and memantine (namenda)?: - Cholinesterase inhibitors prevent the
breakdown of acetylcholine, whereas memantine (namenda) regulates the
activity of glutamate
13. What is ataxia?: - Also known as cerebellum attacks
Degenerative disease of the nervous system
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, - Many symptoms mimic those of being drunk (i.e. slurred speech, stumbling, falling,
n n n n n n n n n n n
n and incoordination)
n
14. What causes the symptoms of ataxia?: - The damage caused to the
n n n n n n n n n n n
n cerebel- lum, the part of the brain that is responsible for coordinating movements
n n n n n n n n n n n n
- Can also be caused by damage to part of the spinal cord and nerves
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15. What is the treatment for ataxia?: - No treatment
n n n n n n n n
- In some cases, treating the underlying causes (i.e. stopping medications that cause
n n n n n n n n n n n
n ataxia)
- In other cases, it is a result from chicken pox or other viral infections (likely
n n n n n n n n n n n n n n
n to resolve on its own)
n n n n
- Genetic causes/predisposed disposition is usually chronic
n n n n n
16. What causes ataxia in the pediatric population?: - Genetic predisposition
n n n n n n n n n
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
n n n n
- Prader-Willie Syndrome n
17. What is Fragile X syndrome (FXS)?: - A genetic condition inherited
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n from parents which results in various developmental problems
n n n n n n n
- Rare, but may be dangerous or life-threatening
n n n n n n
- Present at birth and is a lifelong condition
n n n n n n n
- Rarely requires lab testing or imaging
n n n n n
- Often linked to autism (1/3 do have autism)
n n n n n n n
- X-linked disorder n
18. Since Fragile X Syndrome (FXS) is an X-linked disorder, does a n n n n n n n n n n
n specific gender have a greater risk?: - Often, females are carriers and males
n n n n n n n n n n n n
n are affected
n
- However, both males and females can be carriers, and both can be affected by the
n n n n n n n n n n n n n n
n condition
- Usually milder in females n n n
19. How did Fragile X Syndrome (FXS) get its name?: - The gene Fragile X
n n n n n n n n n n n n n
n (the FMR1 gene) is on the X syndrome
n n n n n n n
- Mutation of the FMR1 gene n n n n
20. What is the difference between Fragile X-Associated Tremor/Ataxia
n n n n n n n
n Syn- drome (FXTAS) and Fragile X Syndrome (FXS)?: - Both caused by
n n n n n n n n n n n
n mutations on the FMR1 gene, but they are caused by different changes in this
n n n n n n n n n n n n n
n gene
- FXS is caused by a full mutation
n n n n n n
- FXTAS is a premutation n n n
- FXS is present at birth, but display these features in early life
n n n n n n n n n n n
- FXTAS develops in adulthood (usually after age 50) and the symptoms may appear
n n n n n n n n n n n n
n slowly and develop over the years
n n n n n
- FXTAS individuals are usually healthy with normal cognitive skills prior to the onset
n n n n n n n n n n n n
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, 21. How is Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
n n n n n n
diag- nosed?: - Being a FMR1 premutation carrier
n n n n n n n n
- The appearance of neurological features such as ataxia (balance
n n n n n n n n
problems), tremors, and other symptoms
n n n n n
- MRI findings (changes in the brain)
n n n n n
22. What is Prader-Willie Syndrome?: - Genetic disorder that affects many
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parts of the body and their growth
n n n n n n n
- Causes mental and behavioral problems n n n n
- Can be dangerous or life threatening if untreated
n n n n n n n
- Combination of contraceptives contraindicated in breast feeding n n n n n n
- More common in females n n n
- Confirmed from laboratory findings n n n
23. What is the cause of Prader-Willi Syndrome?: - Depletion of chromosome
n n n n n n n n n n
15 from father
n n n
- Missing or non-working genes on chromosome 15 (15q11-q13)
n n n n n n n
- Most cases are not inherited and occur randomly
n n n n n n n
- Depletion of genes (genes from the region are missing)
n n n n n n n n
- Uniparental disomy - both chromosomes are inherited from the mother
n n n n n n n n n
- Imprinting mutation - genes on the paternal chromosome is inactive
n n n n n n n n n
24. What does Prader-Willi Syndrome do to the body?: - Caused then n n n n n n n n n
hypothala- mus to malfunction (the area of the brain that affects hunger, thirst, sex
n n n n n n n n n n n n n n
and growth hormones)
n n n
- In infancy, an individual does not meet development milestones suck as sitting
n n n n n n n n n n n
up and walking
n n n
- Their eyes lack coordination
n n n
25. What is a key feature of Prader-Willi Syndrome?: - A constantn n n n n n n n n n
sense of hunger that usually begins around 2 years of age
n n n n n n n n n n n
- People with Prader-Willi Syndrome want to eat constantly because they never feel
n n n n n n n n n n n
full n
26. What are some symptoms in infants with Prader-Willi Syndrome?: -
n n n n n n n n n
Hypo- tonia with floppy structure and poor muscle tone
n n n n n n n n n
- Distinct facial features affecting the shape and size of eyes, lips, forehead, etc.
n n n n n n n n n n n n
- Poor sucking ability making it difficult to feed
n n n n n n n
- Always lethargic and poor responsiveness n n n n
- Underdeveloped genitals n
27. What is celiac disease?: - Autoimmune disease
n n n n n n
- Damages to the small intestinal epithelium when there is ingestion of gluten
n n n n n n n n n n n
- Loss of mucosal surface and brush border enzymes leads to severe malabsorption
n n n n n n n n n n n
that is more pronounced in the duodenum and jejunum
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