PAPER 2026 QUESTIONS WITH ANSWERS
FULL SOLUTION.
How does memantine (namenda) work? Answer: - 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
What is the difference in MOA between cholinesterase inhibitors
and memantine (namenda)? Answer: - Cholinesterase inhibitors prevent
the breakdown of acetylcholine, whereas memantine (namenda)
regulates the activity of glutamate
What is ataxia? Answer: - Also known as cerebellum attacks
- Degenerative disease of the nervous system
- Many symptoms mimic those of being drunk (i.e. slurred speech,
stumbling, falling, and incoordination)
, What causes the symptoms of ataxia? Answer: - The damage caused
to the cerebellum, the part of the brain that is responsible for
coordinating movements
- Can also be caused by damage to part of the spinal cord and nerves
What is the treatment for ataxia? Answer: - No treatment
- In some cases, treating the underlying causes (i.e. stopping medications
that cause ataxia)
- In other cases, it is a result from chicken pox or other viral infections
(likely to resolve on its own)
- Genetic causes/predisposed disposition is usually chronic
What causes ataxia in the pediatric population? Answer: - Genetic
predisposition
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Prader-Willie Syndrome
What is Fragile X syndrome (FXS)? Answer: - A genetic condition
inherited from parents which results in various developmental problems
- Rare, but may be dangerous or life-threatening
- Present at birth and is a lifelong condition
- Rarely requires lab testing or imaging
- Often linked to autism (1/3 do have autism)
,- X-linked disorder
Since Fragile X Syndrome (FXS) is an X-linked disorder, does a
specific gender have a greater risk? Answer: - Often, females are
carriers and males are affected
- However, both males and females can be carriers, and both can be
affected by the condition
- Usually milder in females
How did Fragile X Syndrome (FXS) get its name? Answer: - The
gene Fragile X (the FMR1 gene) is on the X syndrome
- Mutation of the FMR1 gene
What is the difference between Fragile X-Associated Tremor/Ataxia
Syndrome (FXTAS) and Fragile X Syndrome (FXS)? Answer: - Both
caused by mutations on the FMR1 gene, but they are caused by different
changes in this gene
- FXS is caused by a full mutation
- FXTAS is a premutation
- FXS is present at birth, but display these features in early life
- FXTAS develops in adulthood (usually after age 50) and the symptoms
may appear slowly and develop over the years
- FXTAS individuals are usually healthy with normal cognitive skills
prior to the onset
, How is Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
diagnosed? Answer: - Being a FMR1 premutation carrier
- The appearance of neurological features such as ataxia (balance
problems), tremors, and other symptoms
- MRI findings (changes in the brain)
What is Prader-Willie Syndrome? Answer: - Genetic disorder that
affects many parts of the body and their growth
- Causes mental and behavioral problems
- Can be dangerous or life threatening if untreated
- Combination of contraceptives contraindicated in breast feeding
- More common in females
- Confirmed from laboratory findings
What is the cause of Prader-Willi Syndrome? Answer: - Depletion
of chromosome 15 from father
- Missing or non-working genes on chromosome 15 (15q11-q13)
- Most cases are not inherited and occur randomly
- Depletion of genes (genes from the region are missing)
- Uniparental disomy - both chromosomes are inherited from the mother
- Imprinting mutation - genes on the paternal chromosome is inactive