The Most Common Hereditary Ataxia Syndrome

The Most Common Hereditary Ataxia Syndrome
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The Most Common Hereditary Ataxia Syndrome
1. Which of the following is the most common hereditary ataxia syndrome?
A. Vitamin E deficiency
B. Refsum disease
C. Friedreich’s ataxia (FA)
D. Hereditary motor and sensory neuropathy
E. None of the above
2. A 20-year-old female with progressive ataxia and gait disturbance is
found to have FA. Which of the following is true?
A. Almost 100% of patients are wheelchair bound by age 45.
B. It is inherited in an autosomal dominant fashion.
C. It is most prevalent in the African American populations.
D. The average age of onset is 40 years old.
E. None of the above
Chapter 11 • Neurogenetics 147
 
3. Which chromosome does the frataxin gene expansion occur on?
A. 2
B. 9
C. 12
D. 21
E. 14
4. A 30-year-old male with hx of Huntington’s disease (HD) has a father
who recently passed away at age 50 with the same disease. Which of the
following is true?
A. There will be gross atrophy of the caudate and putamen.
B. Patients with HD only have chorea and no bradykinesia.
C. Dementia is a rare complication of HD.
D. Juvenile HD accounts for the majority of patients with this disease.
E. None of the above
5. Which of the following is not considered part of the differential diagnosis of HD?
A. Wilson’s disease
B. Neuroacanthocytosis
C. Lupus
D. Thyroid disease
E. All of the above are part of the differential.
The Most Common Hereditary Ataxia Syndrome
6. A patient with a well-known family history of Alzheimer’s dementia (AD)
starts developing memory issues. Which of the following is true regarding familial AD?
A. There have been no genes associated with this disorder.
B. There are four major loci that have been found associated with AD.
C. Lipoprotein E epsilon 3 has been a known risk factor.
D. Down syndrome patients are protected from AD.
E. None of the above
7. Which of the following statements is true regarding episodic ataxia type
1 and 2?
A. Episodic ataxia type 1 is associated with continuous myokymia.
B. Episodic ataxia type 1 and 2 are autosomal recessive disorders.
C. Episodic ataxia 1 is autosomal recessive, and type 2 is autosomal
dominant.
D. Episodic ataxia type 1 is associated with hemiplegic migraines.
E. None of the above
148 Section I • Neurology
 
8. A 25-year-old female patient presents with cerebellar ataxia, night
blindness, and degeneration of the retina. She also has polyneuropathy
and sensorineural deafness. A lumbar puncture (LP) is performed, and
cerebrospinal fluid (CSF) protein is elevated. Which of the following
is true?
A. Steroid therapy should be instituted immediately.
B. This is inherited in an autosomal dominant pattern.
C. There will be elevated phytanic acid in the plasma and urine.
D. There is no treatment for this disorder.
E. None of the above
The Most Common Hereditary Ataxia Syndrome
9. What is the most common genetic alteration associated with
meningiomas?
A. Defect on chromosome 1
B. Loss of NF2 gene on chromosome 22
C. Trisomy 21
D. Monosomy 8
E. None of the above
10. Which of the following is or are part of the differential diagnosis for
Kennedy’s disease?
A. Amyotrophic lateral sclerosis (ALS)
B. Myasthenia gravis
C. Syphilis
D. Spinal muscular atrophy
E. All of the above
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