Neuro 7

Question 1

Essential tremor is thought to have what pattern of inheritance? Why?

Answer 1

Autosomal dominant because nearly 2/3 will have +ve family history.

Question 2

What are the two mainstay treatments for Essential tremor?

Answer 2

1. Propranolol

2. Primidone (barbiturate AED)

Question 3

If medication therapy fails and essential tremor symptoms are very severe…what two treatment options are available?

How effective are these treatments?

Answer 3

Stereotactic thalamotomy (reduction in 75-90% of cases)

Thalamic DBS (reduction in 80% of cases)

Question 4

What tumor is associated with Myasthenia Gravis? How?

Answer 4

Thymoma

Thymus gland is thought to produce AchR subunits that act as auto antigens in sensitizing patient against AchR.

Question 5

Fredericks Ataxia presents with adolescent onset of gait ataxia, decreased LE proprioception, decreased DTR of LE, eye problems and dysarthria…

What is the genetic defect and what is the inheritance pattern?

Answer 5

Trinucleotide expansion of GAA

Autosomal Recessive.

Question 6

Fredericks Ataxia presents with adolescent onset of gait ataxia, decreased LE proprioception, decreased DTR of LE, eye problems and dysarthria…

What is the ultimate prognosis and at what age do these individuals die/how?

Answer 6

Ultimate loss of mobility and death by 4th decade of life, usually by cardiomyopathy.

Question 7

What are the hallmark symptoms of Myotonic Dystrophy?

What is the genetic defect and inheritance pattern?

Answer 7

1. Myotonia - inability to relax contracted muscles (unable to let go of hand shake)
2. Frontal baldness, facial weakness and ptosis
   3 Muscle weakness distall >proximal

Trinucleotide repeat of CTG, Autosomal Dominant

Question 8

Genes involved in Migraines are thought to map onto what chromosome?

Answer 8

Chromosome 19.

Question 9

Cyssticercosis presents with numerous neurological symptoms….

What is the organism implicated?

How does one get this disease and what is the pathogenesis?

Diagnostic test of choice?

Answer 9

Taenia Solium (T. Solium)

Undercooked pork with tape worm eggs, which then hatch in GI and migrate up to CNS.

Diagnose with MRI + CSF ELISA

Question 10

What is Miller-Fisher Syndrome?

What is the classic triad of symptoms?

Answer 10

Variant of Guillain Barre Syndrome, where motor strength is usually intact.

TRIAD of:

1. Ataxia
2. Areflexia
3. Ophthalmoplegia