Buy Neurogenetics Discussion Assignment Help

Buy Neurogenetics Discussion Assignment Help
Buy Neurogenetics Discussion Assignment Help
QUESTIONS
1. Which one of the following is associated with a trinucleotide repeat
expansion?
A. Tuberous sclerosis
B. McCardle’s disease
C. Myotonic dystrophy
D. Sjögren’s syndrome
E. Acute intermittent porphyria
2. You examine a child with weakness, wasting of the calf muscles, and diminished ankle reflexes. On nerve conduction study, you find severe slowing of the conduction velocity. Several of the patient’s relatives have had
similar symptoms, including the patient’s father as well as three of her four
siblings. This disease is most likely is associated with which chromosome?
A. 1
B. 12
C. 6
D. 21
E. X linked
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3. A variant of the apolipoprotein E (apoE) gene has been linked with
increased risk of Alzheimer’s disease. On which chromosome is this
gene found?
A. 1
B. X
C. 19
D. 23
E. 6
145
CT
CHAPTER
1
Neurogenetics
11
4. A patient is diagnosed with mitochondrial myopathy, encephalopathy,
lactic acidosis, and stroke (MELAS), which is a mitochondrial genetic
disorder. Which of the following medications should be avoided?
A. Warfarin
B. Valproic acid
C. Aspirin
D. Gabapentin
E. Leviteracitam
5. A patient is diagnosed with cerebral autosomal dominant arteriopathy
with subcortical infarcts and leukoencephalopathy (CADASIL). Which of
the following is true?
A. Pseudobulbar palsy is a rare complication.
B. Mutation of the Notch3 gene
C. Skin biopsy is diagnostic.
D. Strokes are rare complications.
E. None of the above
6. The triad of dysmorphic features, periodic paralysis, and cardiac arrhythmias is part of Anderson-Tawil syndrome. This syndrome is associated
with what mutation?
A. Sodium channel gene
B. Potassium channel gene
C. Dopamine synthesis gene
D. Triple repeat disorder
E. X-linked recessive
7. The majority of inborn errors of metabolism are inherited in what
fashion?
A. X-linked recessive
B. Autosomal dominant
C. Sporadic
D. Autosomal recessive
E. None of the above
146 Section I • Neurology
8. Neurofibromatosis type 2 (NF2) is associated with meningiomas and
acoustic neuromas (often bilateral). NF1 has better prognosis and is associated with a lower incidence of central nervous system (CNS) tumors. The
NF1 gene codes for neurofibromin. What is the function of this protein?
A. ATPase associated
B. Tumor suppressor
C. Pro-oncogene
D. cAMP associated
E. None of the above
9. NF1 is inherited in what fashion and is associated with which chromosome?
A. AR: 15
B. AD: 17
C. AD: 22
D. X-linked
E. AR: 9
10. Duchenne’s muscular dystrophy (DMD) is the most common type of
muscular dystrophy. Which statement is true?
A. Spontaneous transmission is the most common.
B. Autosomal dominant transmission is the most common.
C. X-linked transmission is the most common.
D. The size of the mutation increases the severity of the disease.
E. Missense mutation is the most common cause of DMD.
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